Name: rs3184504
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3184504

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:111446804 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.460431 (145195/315346, ALFA)
T=0.309623 (81954/264690, TOPMED)
T=0.332609 (73329/220466, GnomAD_exome) (+ 26 more)
T=0.332057 (46498/140030, GnomAD)
T=0.337451 (37399/110828, ExAC)
T=0.16099 (12669/78694, PAGE_STUDY)
T=0.00004 (1/28258, 14KJPN)
T=0.00000 (0/16760, 8.3KJPN)
T=0.36598 (4760/13006, GO-ESP)
T=0.1482 (949/6404, 1000G_30x)
T=0.1474 (738/5008, 1000G)
T=0.4446 (1992/4480, Estonian)
T=0.4504 (1736/3854, ALSPAC)
T=0.4906 (1819/3708, TWINSUK)
T=0.0007 (2/2930, KOREAN)
T=0.1691 (352/2082, HGDP_Stanford)
T=0.0000 (0/1832, Korea1K)
T=0.3140 (351/1118, Daghestan)
T=0.466 (465/998, GoNL)
T=0.254 (248/978, HapMap)
T=0.432 (259/600, NorthernSweden)
C=0.493 (263/534, MGP)
T=0.091 (48/526, SGDP_PRJ)
T=0.430 (128/298, FINRISK)
T=0.000 (0/252, Vietnamese)
T=0.194 (42/216, Qatari)
T=0.39 (32/82, Ancient Sardinia)
T=0.12 (6/52, Siberian)
T=0.45 (18/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SH2B3 : Missense Variant
Publications: 162 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	331616	T=0.455819	A=0.000000, C=0.544181, G=0.000000
European	Sub	279472	T=0.500465	A=0.000000, C=0.499535, G=0.000000
African	Sub	13610	T=0.09802	A=0.00000, C=0.90198, G=0.00000
African Others	Sub	480	T=0.008	A=0.000, C=0.992, G=0.000
African American	Sub	13130	T=0.10129	A=0.00000, C=0.89871, G=0.00000
Asian	Sub	6866	T=0.0010	A=0.0000, C=0.9990, G=0.0000
East Asian	Sub	4924	T=0.0006	A=0.0000, C=0.9994, G=0.0000
Other Asian	Sub	1942	T=0.0021	A=0.0000, C=0.9979, G=0.0000
Latin American 1	Sub	986	T=0.415	A=0.000, C=0.585, G=0.000
Latin American 2	Sub	6536	T=0.2526	A=0.0000, C=0.7474, G=0.0000
South Asian	Sub	5124	T=0.1218	A=0.0000, C=0.8782, G=0.0000
Other	Sub	19022	T=0.38198	A=0.00000, C=0.61802, G=0.00000

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	315346	T=0.460431	A=0.000000, C=0.539569, G=0.000000
Allele Frequency Aggregator	European	Sub	269478	T=0.500549	A=0.000000, C=0.499451, G=0.000000
Allele Frequency Aggregator	Other	Sub	17584	T=0.37864	A=0.00000, C=0.62136, G=0.00000
Allele Frequency Aggregator	African	Sub	8772	T=0.1093	A=0.0000, C=0.8907, G=0.0000
Allele Frequency Aggregator	Asian	Sub	6866	T=0.0010	A=0.0000, C=0.9990, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	6536	T=0.2526	A=0.0000, C=0.7474, G=0.0000
Allele Frequency Aggregator	South Asian	Sub	5124	T=0.1218	A=0.0000, C=0.8782, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	986	T=0.415	A=0.000, C=0.585, G=0.000
TopMed	Global	Study-wide	264690	T=0.309623	C=0.690377
gnomAD - Exomes	Global	Study-wide	220466	T=0.332609	C=0.667391
gnomAD - Exomes	European	Sub	119072	T=0.473772	C=0.526228
gnomAD - Exomes	Asian	Sub	41008	T=0.05701	C=0.94299
gnomAD - Exomes	American	Sub	32166	T=0.21075	C=0.78925
gnomAD - Exomes	African	Sub	15924	T=0.06889	C=0.93111
gnomAD - Exomes	Ashkenazi Jewish	Sub	6918	T=0.6589	C=0.3411
gnomAD - Exomes	Other	Sub	5378	T=0.3987	C=0.6013
gnomAD - Genomes	Global	Study-wide	140030	T=0.332057	C=0.667943
gnomAD - Genomes	European	Sub	75796	T=0.47364	C=0.52636
gnomAD - Genomes	African	Sub	42000	T=0.08562	C=0.91438
gnomAD - Genomes	American	Sub	13634	T=0.29500	C=0.70500
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.6701	C=0.3299
gnomAD - Genomes	East Asian	Sub	3128	T=0.0006	C=0.9994
gnomAD - Genomes	Other	Sub	2150	T=0.3498	C=0.6502
ExAC	Global	Study-wide	110828	T=0.337451	C=0.662549
ExAC	Europe	Sub	69734	T=0.47597	C=0.52403
ExAC	Asian	Sub	18840	T=0.05133	C=0.94867
ExAC	American	Sub	11308	T=0.19685	C=0.80315
ExAC	African	Sub	10138	T=0.07289	C=0.92711
ExAC	Other	Sub	808	T=0.342	C=0.658
The PAGE Study	Global	Study-wide	78694	T=0.16099	C=0.83901
The PAGE Study	AfricanAmerican	Sub	32510	T=0.09317	C=0.90683
The PAGE Study	Mexican	Sub	10810	T=0.24052	C=0.75948
The PAGE Study	Asian	Sub	8318	T=0.0030	C=0.9970
The PAGE Study	PuertoRican	Sub	7918	T=0.3131	C=0.6869
The PAGE Study	NativeHawaiian	Sub	4532	T=0.1242	C=0.8758
The PAGE Study	Cuban	Sub	4230	T=0.3641	C=0.6359
The PAGE Study	Dominican	Sub	3828	T=0.2495	C=0.7505
The PAGE Study	CentralAmerican	Sub	2450	T=0.2012	C=0.7988
The PAGE Study	SouthAmerican	Sub	1982	T=0.2397	C=0.7603
The PAGE Study	NativeAmerican	Sub	1260	T=0.3476	C=0.6524
The PAGE Study	SouthAsian	Sub	856	T=0.084	C=0.916
14KJPN	JAPANESE	Study-wide	28258	T=0.00004	C=0.99996
8.3KJPN	JAPANESE	Study-wide	16760	T=0.00000	C=1.00000
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.36598	C=0.63402
GO Exome Sequencing Project	European American	Sub	8600	T=0.5053	C=0.4947
GO Exome Sequencing Project	African American	Sub	4406	T=0.0940	C=0.9060
1000Genomes_30x	Global	Study-wide	6404	T=0.1482	C=0.8518
1000Genomes_30x	African	Sub	1786	T=0.0174	C=0.9826
1000Genomes_30x	Europe	Sub	1266	T=0.4605	C=0.5395
1000Genomes_30x	South Asian	Sub	1202	T=0.0616	C=0.9384
1000Genomes_30x	East Asian	Sub	1170	T=0.0034	C=0.9966
1000Genomes_30x	American	Sub	980	T=0.262	C=0.738
1000Genomes	Global	Study-wide	5008	T=0.1474	C=0.8526
1000Genomes	African	Sub	1322	T=0.0189	C=0.9811
1000Genomes	East Asian	Sub	1008	T=0.0030	C=0.9970
1000Genomes	Europe	Sub	1006	T=0.4642	C=0.5358
1000Genomes	South Asian	Sub	978	T=0.069	C=0.931
1000Genomes	American	Sub	694	T=0.254	C=0.746
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4446	C=0.5554
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4504	C=0.5496
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4906	C=0.5094
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0007	C=0.9993
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.1691	C=0.8309
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.015	C=0.985
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.159	C=0.841
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	T=0.374	C=0.626
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.444	C=0.556
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.008	C=0.992
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.023	C=0.977
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.00	C=1.00
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	C=1.0000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1118	T=0.3140	C=0.6860
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	T=0.337	C=0.663
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	T=0.289	C=0.711
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	T=0.220	C=0.780
Genome-wide autozygosity in Daghestan	Europe	Sub	104	T=0.471	C=0.529
Genome-wide autozygosity in Daghestan	South Asian	Sub	92	T=0.05	C=0.95
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.53	C=0.47
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.466	C=0.534
HapMap	Global	Study-wide	978	T=0.254	C=0.746
HapMap	American	Sub	594	T=0.261	C=0.739
HapMap	Europe	Sub	176	T=0.528	C=0.472
HapMap	African	Sub	120	T=0.000	C=1.000
HapMap	Asian	Sub	88	T=0.00	C=1.00
Northern Sweden	ACPOP	Study-wide	600	T=0.432	C=0.568
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.507	C=0.493
SGDP_PRJ	Global	Study-wide	526	T=0.091	C=0.909
FINRISK	Finnish from FINRISK project	Study-wide	298	T=0.430	C=0.570
A Vietnamese Genetic Variation Database	Global	Study-wide	252	T=0.000	C=1.000
Qatari	Global	Study-wide	216	T=0.194	C=0.806
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	82	T=0.39	C=0.61
Siberian	Global	Study-wide	52	T=0.12	C=0.88
The Danish reference pan genome	Danish	Study-wide	40	T=0.45	C=0.55

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 12	NC_000012.12:g.111446804T>A
GRCh38.p14 chr 12	NC_000012.12:g.111446804T>C
GRCh38.p14 chr 12	NC_000012.12:g.111446804T>G
GRCh37.p13 chr 12	NC_000012.11:g.111884608T>A
GRCh37.p13 chr 12	NC_000012.11:g.111884608T>C
GRCh37.p13 chr 12	NC_000012.11:g.111884608T>G
ATXN2 RefSeqGene (LRG_864)	NG_011572.3:g.157873A>T
ATXN2 RefSeqGene (LRG_864)	NG_011572.3:g.157873A>G
ATXN2 RefSeqGene (LRG_864)	NG_011572.3:g.157873A>C
SH2B3 RefSeqGene (LRG_621)	NG_021216.1:g.45857T>A
SH2B3 RefSeqGene (LRG_621)	NG_021216.1:g.45857T>C
SH2B3 RefSeqGene (LRG_621)	NG_021216.1:g.45857T>G

Gene: SH2B3, SH2B adaptor protein 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SH2B3 transcript variant 2	NM_001291424.1:c.178T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform 2	NP_001278353.1:p.Trp60Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant 2	NM_001291424.1:c.178T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform 2	NP_001278353.1:p.Trp60Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant 2	NM_001291424.1:c.178T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform 2	NP_001278353.1:p.Trp60Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant 1	NM_005475.3:c.784T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform 1	NP_005466.1:p.Trp262Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant 1	NM_005475.3:c.784T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform 1	NP_005466.1:p.Trp262Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant 1	NM_005475.3:c.784T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform 1	NP_005466.1:p.Trp262Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant X8	XM_006719180.5:c.-18=	N/A	5 Prime UTR Variant
SH2B3 transcript variant X9	XM_047428028.1:c.-18=	N/A	5 Prime UTR Variant
SH2B3 transcript variant X1	XM_011537719.3:c.904T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X1	XP_011536021.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X1	XM_011537719.3:c.904T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X1	XP_011536021.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X1	XM_011537719.3:c.904T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X1	XP_011536021.1:p.Trp302Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant X2	XM_011537720.4:c.904T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X1	XP_011536022.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X2	XM_011537720.4:c.904T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X1	XP_011536022.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X2	XM_011537720.4:c.904T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X1	XP_011536022.1:p.Trp302Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant X3	XM_005253818.5:c.904T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X2	XP_005253875.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X3	XM_005253818.5:c.904T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X2	XP_005253875.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X3	XM_005253818.5:c.904T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X2	XP_005253875.1:p.Trp302Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant X4	XM_047428025.1:c.904T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X2	XP_047283981.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X4	XM_047428025.1:c.904T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X2	XP_047283981.1:p.Trp302Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X4	XM_047428025.1:c.904T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X2	XP_047283981.1:p.Trp302Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant X5	XM_005253819.5:c.784T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X3	XP_005253876.1:p.Trp262Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X5	XM_005253819.5:c.784T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X3	XP_005253876.1:p.Trp262Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X5	XM_005253819.5:c.784T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X3	XP_005253876.1:p.Trp262Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant X6	XM_047428026.1:c.784T>A	W [TGG] > R [AGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X4	XP_047283982.1:p.Trp262Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X6	XM_047428026.1:c.784T>C	W [TGG] > R [CGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X4	XP_047283982.1:p.Trp262Arg	W (Trp) > R (Arg)	Missense Variant
SH2B3 transcript variant X6	XM_047428026.1:c.784T>G	W [TGG] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X4	XP_047283982.1:p.Trp262Gly	W (Trp) > G (Gly)	Missense Variant
SH2B3 transcript variant X7	XM_047428027.1:c.1014T>A	G [GGT] > G [GGA]	Coding Sequence Variant
SH2B adapter protein 3 isoform X5	XP_047283983.1:p.Gly338=	G (Gly) > G (Gly)	Synonymous Variant
SH2B3 transcript variant X7	XM_047428027.1:c.1014T>C	G [GGT] > G [GGC]	Coding Sequence Variant
SH2B adapter protein 3 isoform X5	XP_047283983.1:p.Gly338=	G (Gly) > G (Gly)	Synonymous Variant
SH2B3 transcript variant X7	XM_047428027.1:c.1014T>G	G [GGT] > G [GGG]	Coding Sequence Variant
SH2B adapter protein 3 isoform X5	XP_047283983.1:p.Gly338=	G (Gly) > G (Gly)	Synonymous Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 1254915 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001667974.2	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	T=	A	C	G
GRCh38.p14 chr 12	NC_000012.12:g.111446804=	NC_000012.12:g.111446804T>A	NC_000012.12:g.111446804T>C	NC_000012.12:g.111446804T>G
GRCh37.p13 chr 12	NC_000012.11:g.111884608=	NC_000012.11:g.111884608T>A	NC_000012.11:g.111884608T>C	NC_000012.11:g.111884608T>G
ATXN2 RefSeqGene (LRG_864)	NG_011572.3:g.157873=	NG_011572.3:g.157873A>T	NG_011572.3:g.157873A>G	NG_011572.3:g.157873A>C
SH2B3 RefSeqGene (LRG_621)	NG_021216.1:g.45857=	NG_021216.1:g.45857T>A	NG_021216.1:g.45857T>C	NG_021216.1:g.45857T>G
SH2B3 transcript variant 1	NM_005475.3:c.784=	NM_005475.3:c.784T>A	NM_005475.3:c.784T>C	NM_005475.3:c.784T>G
SH2B3 transcript variant 1	NM_005475.2:c.784=	NM_005475.2:c.784T>A	NM_005475.2:c.784T>C	NM_005475.2:c.784T>G
SH2B3 transcript variant 2	NM_001291424.1:c.178=	NM_001291424.1:c.178T>A	NM_001291424.1:c.178T>C	NM_001291424.1:c.178T>G
SH2B3 transcript variant X3	XM_005253818.5:c.904=	XM_005253818.5:c.904T>A	XM_005253818.5:c.904T>C	XM_005253818.5:c.904T>G
SH2B3 transcript variant X3	XM_005253818.4:c.904=	XM_005253818.4:c.904T>A	XM_005253818.4:c.904T>C	XM_005253818.4:c.904T>G
SH2B3 transcript variant X3	XM_005253818.3:c.904=	XM_005253818.3:c.904T>A	XM_005253818.3:c.904T>C	XM_005253818.3:c.904T>G
SH2B3 transcript variant X1	XM_005253818.2:c.904=	XM_005253818.2:c.904T>A	XM_005253818.2:c.904T>C	XM_005253818.2:c.904T>G
SH2B3 transcript variant X1	XM_005253818.1:c.904=	XM_005253818.1:c.904T>A	XM_005253818.1:c.904T>C	XM_005253818.1:c.904T>G
SH2B3 transcript variant X8	XM_006719180.5:c.-18=	XM_006719180.5:c.-18T>A	XM_006719180.5:c.-18T>C	XM_006719180.5:c.-18T>G
SH2B3 transcript variant X10	XM_006719180.4:c.-18=	XM_006719180.4:c.-18T>A	XM_006719180.4:c.-18T>C	XM_006719180.4:c.-18T>G
SH2B3 transcript variant X8	XM_006719180.3:c.-18=	XM_006719180.3:c.-18T>A	XM_006719180.3:c.-18T>C	XM_006719180.3:c.-18T>G
SH2B3 transcript variant X7	XM_006719180.2:c.-18=	XM_006719180.2:c.-18T>A	XM_006719180.2:c.-18T>C	XM_006719180.2:c.-18T>G
SH2B3 transcript variant X3	XM_006719180.1:c.-18=	XM_006719180.1:c.-18T>A	XM_006719180.1:c.-18T>C	XM_006719180.1:c.-18T>G
SH2B3 transcript variant X5	XM_005253819.5:c.784=	XM_005253819.5:c.784T>A	XM_005253819.5:c.784T>C	XM_005253819.5:c.784T>G
SH2B3 transcript variant X4	XM_005253819.4:c.784=	XM_005253819.4:c.784T>A	XM_005253819.4:c.784T>C	XM_005253819.4:c.784T>G
SH2B3 transcript variant X4	XM_005253819.3:c.784=	XM_005253819.3:c.784T>A	XM_005253819.3:c.784T>C	XM_005253819.3:c.784T>G
SH2B3 transcript variant X2	XM_005253819.2:c.784=	XM_005253819.2:c.784T>A	XM_005253819.2:c.784T>C	XM_005253819.2:c.784T>G
SH2B3 transcript variant X2	XM_005253819.1:c.784=	XM_005253819.1:c.784T>A	XM_005253819.1:c.784T>C	XM_005253819.1:c.784T>G
SH2B3 transcript variant X2	XM_011537720.4:c.904=	XM_011537720.4:c.904T>A	XM_011537720.4:c.904T>C	XM_011537720.4:c.904T>G
SH2B3 transcript variant X2	XM_011537720.3:c.904=	XM_011537720.3:c.904T>A	XM_011537720.3:c.904T>C	XM_011537720.3:c.904T>G
SH2B3 transcript variant X2	XM_011537720.2:c.904=	XM_011537720.2:c.904T>A	XM_011537720.2:c.904T>C	XM_011537720.2:c.904T>G
SH2B3 transcript variant X2	XM_011537720.1:c.904=	XM_011537720.1:c.904T>A	XM_011537720.1:c.904T>C	XM_011537720.1:c.904T>G
SH2B3 transcript variant X1	XM_011537719.3:c.904=	XM_011537719.3:c.904T>A	XM_011537719.3:c.904T>C	XM_011537719.3:c.904T>G
SH2B3 transcript variant X1	XM_011537719.2:c.904=	XM_011537719.2:c.904T>A	XM_011537719.2:c.904T>C	XM_011537719.2:c.904T>G
SH2B3 transcript variant X1	XM_011537719.1:c.904=	XM_011537719.1:c.904T>A	XM_011537719.1:c.904T>C	XM_011537719.1:c.904T>G
SH2B3 transcript variant X4	XM_047428025.1:c.904=	XM_047428025.1:c.904T>A	XM_047428025.1:c.904T>C	XM_047428025.1:c.904T>G
SH2B3 transcript variant X6	XM_047428026.1:c.784=	XM_047428026.1:c.784T>A	XM_047428026.1:c.784T>C	XM_047428026.1:c.784T>G
SH2B3 transcript variant X9	XM_047428028.1:c.-18=	XM_047428028.1:c.-18T>A	XM_047428028.1:c.-18T>C	XM_047428028.1:c.-18T>G
SH2B3 transcript variant X7	XM_047428027.1:c.1014=	XM_047428027.1:c.1014T>A	XM_047428027.1:c.1014T>C	XM_047428027.1:c.1014T>G
SH2B adapter protein 3 isoform 1	NP_005466.1:p.Trp262=	NP_005466.1:p.Trp262Arg	NP_005466.1:p.Trp262Arg	NP_005466.1:p.Trp262Gly
SH2B adapter protein 3 isoform 2	NP_001278353.1:p.Trp60=	NP_001278353.1:p.Trp60Arg	NP_001278353.1:p.Trp60Arg	NP_001278353.1:p.Trp60Gly
SH2B adapter protein 3 isoform X2	XP_005253875.1:p.Trp302=	XP_005253875.1:p.Trp302Arg	XP_005253875.1:p.Trp302Arg	XP_005253875.1:p.Trp302Gly
SH2B adapter protein 3 isoform X3	XP_005253876.1:p.Trp262=	XP_005253876.1:p.Trp262Arg	XP_005253876.1:p.Trp262Arg	XP_005253876.1:p.Trp262Gly
SH2B adapter protein 3 isoform X1	XP_011536022.1:p.Trp302=	XP_011536022.1:p.Trp302Arg	XP_011536022.1:p.Trp302Arg	XP_011536022.1:p.Trp302Gly
SH2B adapter protein 3 isoform X1	XP_011536021.1:p.Trp302=	XP_011536021.1:p.Trp302Arg	XP_011536021.1:p.Trp302Arg	XP_011536021.1:p.Trp302Gly
SH2B adapter protein 3 isoform X2	XP_047283981.1:p.Trp302=	XP_047283981.1:p.Trp302Arg	XP_047283981.1:p.Trp302Arg	XP_047283981.1:p.Trp302Gly
SH2B adapter protein 3 isoform X4	XP_047283982.1:p.Trp262=	XP_047283982.1:p.Trp262Arg	XP_047283982.1:p.Trp262Arg	XP_047283982.1:p.Trp262Gly
SH2B adapter protein 3 isoform X5	XP_047283983.1:p.Gly338=	XP_047283983.1:p.Gly338=	XP_047283983.1:p.Gly338=	XP_047283983.1:p.Gly338=

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

215 SubSNP, 31 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss4407266	May 29, 2002 (105)
2	WI_SSAHASNP	ss6574914	Feb 20, 2003 (111)
3	WI_SSAHASNP	ss12197488	Jul 11, 2003 (116)
4	PERLEGEN	ss24356019	Sep 20, 2004 (123)
5	ABI	ss38897343	Mar 14, 2006 (126)
6	ILLUMINA	ss65727371	Oct 16, 2006 (127)
7	ILLUMINA	ss66778536	Dec 01, 2006 (127)
8	ILLUMINA	ss67292465	Dec 01, 2006 (127)
9	ILLUMINA	ss67696215	Dec 01, 2006 (127)
10	PERLEGEN	ss69120710	May 18, 2007 (127)
11	ILLUMINA	ss70771054	May 26, 2008 (130)
12	ILLUMINA	ss71346346	May 18, 2007 (127)
13	AFFY	ss74806086	Aug 16, 2007 (128)
14	ILLUMINA	ss75780868	Dec 07, 2007 (129)
15	HGSV	ss77736145	Dec 07, 2007 (129)
16	ILLUMINA	ss79159798	Dec 15, 2007 (130)
17	HGSV	ss84011234	Dec 15, 2007 (130)
18	KRIBB_YJKIM	ss84156484	Dec 15, 2007 (130)
19	HGSV	ss85805662	Dec 15, 2007 (130)
20	CORNELL	ss86270293	Mar 23, 2008 (129)
21	BCMHGSC_JDW	ss89389281	Mar 24, 2008 (129)
22	HUMANGENOME_JCVI	ss97341403	Feb 06, 2009 (130)
23	BGI	ss105122245	Dec 01, 2009 (131)
24	1000GENOMES	ss112443986	Jan 25, 2009 (130)
25	1000GENOMES	ss114107721	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss119715227	Dec 01, 2009 (131)
27	ILLUMINA	ss120037231	Dec 01, 2009 (131)
28	ILLUMINA	ss122178896	Dec 01, 2009 (131)
29	ENSEMBL	ss132063107	Dec 01, 2009 (131)
30	ILLUMINA	ss154256485	Dec 01, 2009 (131)
31	GMI	ss157912584	Dec 01, 2009 (131)
32	ILLUMINA	ss159433052	Dec 01, 2009 (131)
33	SEATTLESEQ	ss159727254	Dec 01, 2009 (131)
34	ILLUMINA	ss160615504	Dec 01, 2009 (131)
35	COMPLETE_GENOMICS	ss168718503	Jul 04, 2010 (132)
36	COMPLETE_GENOMICS	ss170882248	Jul 04, 2010 (132)
37	ILLUMINA	ss171558443	Jul 04, 2010 (132)
38	ILLUMINA	ss173572827	Jul 04, 2010 (132)
39	COMPLETE_GENOMICS	ss175268123	Jul 04, 2010 (132)
40	BUSHMAN	ss198695160	Jul 04, 2010 (132)
41	BCM-HGSC-SUB	ss208305881	Jul 04, 2010 (132)
42	1000GENOMES	ss225963292	Jul 14, 2010 (132)
43	1000GENOMES	ss236089992	Jul 15, 2010 (132)
44	1000GENOMES	ss242616780	Jul 15, 2010 (132)
45	ILLUMINA	ss244294065	Jul 04, 2010 (132)
46	BL	ss255347195	May 09, 2011 (134)
47	GMI	ss281548840	May 04, 2012 (137)
48	GMI	ss286627416	Apr 25, 2013 (138)
49	PJP	ss291341096	May 09, 2011 (134)
50	NHLBI-ESP	ss342367326	May 09, 2011 (134)
51	ILLUMINA	ss410928804	Sep 17, 2011 (135)
52	PAGE_STUDY	ss469415430	May 04, 2012 (137)
53	PAGE_STUDY	ss469996452	May 04, 2012 (137)
54	ILLUMINA	ss480766058	May 04, 2012 (137)
55	ILLUMINA	ss480781881	May 04, 2012 (137)
56	ILLUMINA	ss481676432	Sep 08, 2015 (146)
57	ILLUMINA	ss485177750	May 04, 2012 (137)
58	1000GENOMES	ss491051606	May 04, 2012 (137)
59	EXOME_CHIP	ss491473752	May 04, 2012 (137)
60	CLINSEQ_SNP	ss491672603	May 04, 2012 (137)
61	ILLUMINA	ss537167191	Sep 08, 2015 (146)
62	TISHKOFF	ss563407246	Apr 25, 2013 (138)
63	SSMP	ss658990117	Apr 25, 2013 (138)
64	ILLUMINA	ss778517243	Aug 21, 2014 (142)
65	ILLUMINA	ss780692749	Sep 08, 2015 (146)
66	ILLUMINA	ss783035050	Aug 21, 2014 (142)
67	ILLUMINA	ss783366572	Sep 08, 2015 (146)
68	ILLUMINA	ss783994607	Aug 21, 2014 (142)
69	ILLUMINA	ss825490316	Apr 01, 2015 (144)
70	ILLUMINA	ss832292705	Apr 01, 2015 (144)
71	ILLUMINA	ss832944650	Aug 21, 2014 (142)
72	ILLUMINA	ss833535480	Aug 21, 2014 (142)
73	ILLUMINA	ss833973587	Aug 21, 2014 (142)
74	JMKIDD_LAB	ss974485195	Aug 21, 2014 (142)
75	EVA-GONL	ss989963230	Aug 21, 2014 (142)
76	JMKIDD_LAB	ss1067537719	Aug 21, 2014 (142)
77	JMKIDD_LAB	ss1078773350	Aug 21, 2014 (142)
78	1000GENOMES	ss1346653073	Aug 21, 2014 (142)
79	HAMMER_LAB	ss1397645690	Sep 08, 2015 (146)
80	DDI	ss1427055192	Apr 01, 2015 (144)
81	EVA_GENOME_DK	ss1576527888	Apr 01, 2015 (144)
82	EVA_FINRISK	ss1584084544	Apr 01, 2015 (144)
83	EVA_UK10K_ALSPAC	ss1629454212	Apr 01, 2015 (144)
84	EVA_DECODE	ss1642068884	Apr 01, 2015 (144)
85	EVA_UK10K_TWINSUK	ss1672448245	Apr 01, 2015 (144)
86	EVA_EXAC	ss1691110484	Apr 01, 2015 (144)
87	EVA_MGP	ss1711343374	Apr 01, 2015 (144)
88	EVA_SVP	ss1713358367	Apr 01, 2015 (144)
89	ILLUMINA	ss1752046564	Sep 08, 2015 (146)
90	ILLUMINA	ss1752046565	Sep 08, 2015 (146)
91	HAMMER_LAB	ss1807421665	Sep 08, 2015 (146)
92	ILLUMINA	ss1917878872	Feb 12, 2016 (147)
93	WEILL_CORNELL_DGM	ss1933316686	Feb 12, 2016 (147)
94	ILLUMINA	ss1946349929	Feb 12, 2016 (147)
95	ILLUMINA	ss1946349930	Feb 12, 2016 (147)
96	ILLUMINA	ss1959466407	Feb 12, 2016 (147)
97	ILLUMINA	ss1959466408	Feb 12, 2016 (147)
98	GENOMED	ss1967682837	Jul 19, 2016 (147)
99	JJLAB	ss2027415726	Sep 14, 2016 (149)
100	ILLUMINA	ss2094876668	Dec 20, 2016 (150)
101	ILLUMINA	ss2095039351	Dec 20, 2016 (150)
102	ILLUMINA	ss2095039352	Dec 20, 2016 (150)
103	USC_VALOUEV	ss2155764737	Dec 20, 2016 (150)
104	HUMAN_LONGEVITY	ss2193218652	Dec 20, 2016 (150)
105	SYSTEMSBIOZJU	ss2628189064	Nov 08, 2017 (151)
106	ILLUMINA	ss2633009103	Nov 08, 2017 (151)
107	ILLUMINA	ss2633009104	Nov 08, 2017 (151)
108	ILLUMINA	ss2633009105	Nov 08, 2017 (151)
109	ILLUMINA	ss2635040707	Nov 08, 2017 (151)
110	GRF	ss2700122373	Nov 08, 2017 (151)
111	ILLUMINA	ss2710770832	Nov 08, 2017 (151)
112	ILLUMINA	ss2710770833	Nov 08, 2017 (151)
113	GNOMAD	ss2740136544	Nov 08, 2017 (151)
114	GNOMAD	ss2748961501	Nov 08, 2017 (151)
115	GNOMAD	ss2915218698	Nov 08, 2017 (151)
116	AFFY	ss2984991145	Nov 08, 2017 (151)
117	AFFY	ss2985627199	Nov 08, 2017 (151)
118	SWEGEN	ss3010353945	Nov 08, 2017 (151)
119	ILLUMINA	ss3021466620	Nov 08, 2017 (151)
120	ILLUMINA	ss3021466621	Nov 08, 2017 (151)
121	EVA_SAMSUNG_MC	ss3023068024	Nov 08, 2017 (151)
122	BIOINF_KMB_FNS_UNIBA	ss3027517886	Nov 08, 2017 (151)
123	CSHL	ss3350251373	Nov 08, 2017 (151)
124	ILLUMINA	ss3625633433	Oct 12, 2018 (152)
125	ILLUMINA	ss3626969806	Oct 12, 2018 (152)
126	ILLUMINA	ss3626969807	Oct 12, 2018 (152)
127	ILLUMINA	ss3631015518	Oct 12, 2018 (152)
128	ILLUMINA	ss3633034393	Oct 12, 2018 (152)
129	ILLUMINA	ss3633735908	Oct 12, 2018 (152)
130	ILLUMINA	ss3634523901	Oct 12, 2018 (152)
131	ILLUMINA	ss3634523902	Oct 12, 2018 (152)
132	ILLUMINA	ss3635426373	Oct 12, 2018 (152)
133	ILLUMINA	ss3636209824	Oct 12, 2018 (152)
134	ILLUMINA	ss3637177381	Oct 12, 2018 (152)
135	ILLUMINA	ss3637987132	Oct 12, 2018 (152)
136	ILLUMINA	ss3639006551	Oct 12, 2018 (152)
137	ILLUMINA	ss3639506176	Oct 12, 2018 (152)
138	ILLUMINA	ss3640231234	Oct 12, 2018 (152)
139	ILLUMINA	ss3640231235	Oct 12, 2018 (152)
140	ILLUMINA	ss3641035114	Oct 12, 2018 (152)
141	ILLUMINA	ss3641329905	Oct 12, 2018 (152)
142	ILLUMINA	ss3642978719	Oct 12, 2018 (152)
143	ILLUMINA	ss3644602938	Oct 12, 2018 (152)
144	ILLUMINA	ss3644602939	Oct 12, 2018 (152)
145	OMUKHERJEE_ADBS	ss3646447366	Oct 12, 2018 (152)
146	URBANLAB	ss3649923310	Oct 12, 2018 (152)
147	ILLUMINA	ss3651848699	Oct 12, 2018 (152)
148	ILLUMINA	ss3651848700	Oct 12, 2018 (152)
149	ILLUMINA	ss3651848701	Oct 12, 2018 (152)
150	ILLUMINA	ss3653761040	Oct 12, 2018 (152)
151	EGCUT_WGS	ss3677654579	Jul 13, 2019 (153)
152	EVA_DECODE	ss3694473176	Jul 13, 2019 (153)
153	ILLUMINA	ss3725357740	Jul 13, 2019 (153)
154	ACPOP	ss3739385503	Jul 13, 2019 (153)
155	ILLUMINA	ss3744105278	Jul 13, 2019 (153)
156	ILLUMINA	ss3744401077	Jul 13, 2019 (153)
157	ILLUMINA	ss3744824716	Jul 13, 2019 (153)
158	ILLUMINA	ss3744824717	Jul 13, 2019 (153)
159	EVA	ss3750969860	Jul 13, 2019 (153)
160	PAGE_CC	ss3771717582	Jul 13, 2019 (153)
161	ILLUMINA	ss3772323919	Jul 13, 2019 (153)
162	ILLUMINA	ss3772323920	Jul 13, 2019 (153)
163	PACBIO	ss3787336815	Jul 13, 2019 (153)
164	PACBIO	ss3792419121	Jul 13, 2019 (153)
165	PACBIO	ss3797302204	Jul 13, 2019 (153)
166	KHV_HUMAN_GENOMES	ss3816301959	Jul 13, 2019 (153)
167	EVA	ss3824771333	Apr 27, 2020 (154)
168	EVA	ss3825528854	Apr 27, 2020 (154)
169	EVA	ss3825544037	Apr 27, 2020 (154)
170	EVA	ss3825829048	Apr 27, 2020 (154)
171	EVA	ss3833328239	Apr 27, 2020 (154)
172	EVA	ss3840236274	Apr 27, 2020 (154)
173	EVA	ss3845724906	Apr 27, 2020 (154)
174	HGDP	ss3847464281	Apr 27, 2020 (154)
175	SGDP_PRJ	ss3879120237	Apr 27, 2020 (154)
176	KRGDB	ss3927862526	Apr 27, 2020 (154)
177	KOGIC	ss3972734222	Apr 27, 2020 (154)
178	FSA-LAB	ss3984037553	Apr 26, 2021 (155)
179	EVA	ss3984673287	Apr 26, 2021 (155)
180	EVA	ss3984673288	Apr 26, 2021 (155)
181	EVA	ss3985615131	Apr 26, 2021 (155)
182	EVA	ss3986060994	Apr 26, 2021 (155)
183	EVA	ss3986586298	Apr 26, 2021 (155)
184	TOPMED	ss4932895624	Apr 26, 2021 (155)
185	TOMMO_GENOMICS	ss5208179753	Apr 26, 2021 (155)
186	EVA	ss5236909242	Apr 26, 2021 (155)
187	EVA	ss5237222016	Apr 26, 2021 (155)
188	EVA	ss5237660866	Oct 16, 2022 (156)
189	1000G_HIGH_COVERAGE	ss5292245769	Oct 16, 2022 (156)
190	TRAN_CS_UWATERLOO	ss5314436676	Oct 16, 2022 (156)
191	EVA	ss5315649526	Oct 16, 2022 (156)
192	EVA	ss5408249937	Oct 16, 2022 (156)
193	HUGCELL_USP	ss5486848251	Oct 16, 2022 (156)
194	EVA	ss5510845334	Oct 16, 2022 (156)
195	1000G_HIGH_COVERAGE	ss5590478261	Oct 16, 2022 (156)
196	EVA	ss5623959153	Oct 16, 2022 (156)
197	EVA	ss5624036735	Oct 16, 2022 (156)
198	SANFORD_IMAGENETICS	ss5624312311	Oct 16, 2022 (156)
199	SANFORD_IMAGENETICS	ss5653964043	Oct 16, 2022 (156)
200	TOMMO_GENOMICS	ss5758507384	Oct 16, 2022 (156)
201	EVA	ss5799448919	Oct 16, 2022 (156)
202	EVA	ss5799884097	Oct 16, 2022 (156)
203	EVA	ss5800065627	Oct 16, 2022 (156)
204	EVA	ss5800180381	Oct 16, 2022 (156)
205	YY_MCH	ss5813648630	Oct 16, 2022 (156)
206	EVA	ss5838519160	Oct 16, 2022 (156)
207	EVA	ss5847415921	Oct 16, 2022 (156)
208	EVA	ss5847683748	Oct 16, 2022 (156)
209	EVA	ss5848363076	Oct 16, 2022 (156)
210	EVA	ss5850548499	Oct 16, 2022 (156)
211	EVA	ss5906036633	Oct 16, 2022 (156)
212	EVA	ss5936554510	Oct 16, 2022 (156)
213	EVA	ss5945371196	Oct 16, 2022 (156)
214	EVA	ss5979404161	Oct 16, 2022 (156)
215	EVA	ss5980761502	Oct 16, 2022 (156)
216	1000Genomes	NC_000012.11 - 111884608	Oct 12, 2018 (152)
217	1000Genomes_30x	NC_000012.12 - 111446804	Oct 16, 2022 (156)
218	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 111884608	Oct 12, 2018 (152)
219	Genome-wide autozygosity in Daghestan	NC_000012.10 - 110368991	Apr 27, 2020 (154)
220	Genetic variation in the Estonian population	NC_000012.11 - 111884608	Oct 12, 2018 (152)
221	ExAC	NC_000012.11 - 111884608	Oct 12, 2018 (152)
222	FINRISK	NC_000012.11 - 111884608	Apr 27, 2020 (154)
223	The Danish reference pan genome	NC_000012.11 - 111884608	Apr 27, 2020 (154)
224	gnomAD - Genomes	NC_000012.12 - 111446804	Apr 26, 2021 (155)
225	gnomAD - Exomes	NC_000012.11 - 111884608	Jul 13, 2019 (153)
226	GO Exome Sequencing Project	NC_000012.11 - 111884608	Oct 12, 2018 (152)
227	Genome of the Netherlands Release 5	NC_000012.11 - 111884608	Apr 27, 2020 (154)
228	HGDP-CEPH-db Supplement 1	NC_000012.10 - 110368991	Apr 27, 2020 (154)
229	HapMap	NC_000012.12 - 111446804	Apr 27, 2020 (154)
230	KOREAN population from KRGDB	NC_000012.11 - 111884608	Apr 27, 2020 (154)
231	Korean Genome Project	NC_000012.12 - 111446804	Apr 27, 2020 (154)
232	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 111884608	Apr 27, 2020 (154)
233	Northern Sweden	NC_000012.11 - 111884608	Jul 13, 2019 (153)
234	The PAGE Study	NC_000012.12 - 111446804	Jul 13, 2019 (153)
235	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 111884608	Apr 26, 2021 (155)
236	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 222783 (NC_000012.11:111884607:T:C 790/792) Row 222784 (NC_000012.11:111884607:T:C 790/792)	-	Apr 26, 2021 (155)
237	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 222783 (NC_000012.11:111884607:T:C 790/792) Row 222784 (NC_000012.11:111884607:T:C 790/792)	-	Apr 26, 2021 (155)
238	Qatari	NC_000012.11 - 111884608	Apr 27, 2020 (154)
239	SGDP_PRJ	NC_000012.11 - 111884608	Apr 27, 2020 (154)
240	Siberian	NC_000012.11 - 111884608	Apr 27, 2020 (154)
241	8.3KJPN	NC_000012.11 - 111884608	Apr 26, 2021 (155)
242	14KJPN	NC_000012.12 - 111446804	Oct 16, 2022 (156)
243	TopMed	NC_000012.12 - 111446804	Apr 26, 2021 (155)
244	UK 10K study - Twins	NC_000012.11 - 111884608	Oct 12, 2018 (152)
245	A Vietnamese Genetic Variation Database	NC_000012.11 - 111884608	Jul 13, 2019 (153)
246	ALFA	NC_000012.12 - 111446804	Apr 26, 2021 (155)
247	ClinVar	RCV001667974.2	Oct 16, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs17519753	Oct 08, 2004 (123)
rs52803061	Sep 21, 2007 (128)
rs60790578	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
10033986002	NC_000012.12:111446803:T:A	NC_000012.12:111446803:T:A	(self)
ss77736145, ss84011234, ss85805662, ss3639006551, ss3639506176	NC_000012.9:110347327:T:C	NC_000012.12:111446803:T:C	(self)
116440, 142173, ss89389281, ss112443986, ss114107721, ss119715227, ss160615504, ss168718503, ss170882248, ss175268123, ss198695160, ss208305881, ss244294065, ss255347195, ss281548840, ss286627416, ss291341096, ss410928804, ss480766058, ss491672603, ss825490316, ss1397645690, ss1642068884, ss1713358367, ss2094876668, ss2635040707, ss3642978719, ss3847464281	NC_000012.10:110368990:T:C	NC_000012.12:111446803:T:C	(self)
59464358, 33025795, 23392827, 1424973, 81005, 3129036, 9374830, 1228758, 14731716, 35039920, 459134, 12670368, 841058, 15358616, 31137217, 8281091, 66149060, 33025795, 7328178, ss225963292, ss236089992, ss242616780, ss342367326, ss480781881, ss481676432, ss485177750, ss491051606, ss491473752, ss537167191, ss563407246, ss658990117, ss778517243, ss780692749, ss783035050, ss783366572, ss783994607, ss832292705, ss832944650, ss833535480, ss833973587, ss974485195, ss989963230, ss1067537719, ss1078773350, ss1346653073, ss1427055192, ss1576527888, ss1584084544, ss1629454212, ss1672448245, ss1691110484, ss1711343374, ss1752046564, ss1752046565, ss1807421665, ss1917878872, ss1933316686, ss1946349929, ss1946349930, ss1959466407, ss1959466408, ss1967682837, ss2027415726, ss2095039351, ss2095039352, ss2155764737, ss2628189064, ss2633009103, ss2633009104, ss2633009105, ss2700122373, ss2710770832, ss2710770833, ss2740136544, ss2748961501, ss2915218698, ss2984991145, ss2985627199, ss3010353945, ss3021466620, ss3021466621, ss3023068024, ss3350251373, ss3625633433, ss3626969806, ss3626969807, ss3631015518, ss3633034393, ss3633735908, ss3634523901, ss3634523902, ss3635426373, ss3636209824, ss3637177381, ss3637987132, ss3640231234, ss3640231235, ss3641035114, ss3641329905, ss3644602938, ss3644602939, ss3646447366, ss3651848699, ss3651848700, ss3651848701, ss3653761040, ss3677654579, ss3739385503, ss3744105278, ss3744401077, ss3744824716, ss3744824717, ss3750969860, ss3772323919, ss3772323920, ss3787336815, ss3792419121, ss3797302204, ss3824771333, ss3825528854, ss3825544037, ss3825829048, ss3833328239, ss3840236274, ss3879120237, ss3927862526, ss3984037553, ss3984673287, ss3984673288, ss3985615131, ss3986060994, ss3986586298, ss5208179753, ss5315649526, ss5408249937, ss5510845334, ss5623959153, ss5624036735, ss5624312311, ss5653964043, ss5799448919, ss5799884097, ss5800065627, ss5800180381, ss5838519160, ss5847415921, ss5847683748, ss5848363076, ss5936554510, ss5945371196, ss5979404161, ss5980761502	NC_000012.11:111884607:T:C	NC_000012.12:111446803:T:C	(self)
RCV001667974.2, 78004196, 419438189, 905390, 29112223, 939051, 92344488, 148441281, 10033986002, ss2193218652, ss3027517886, ss3649923310, ss3694473176, ss3725357740, ss3771717582, ss3816301959, ss3845724906, ss3972734222, ss4932895624, ss5236909242, ss5237222016, ss5237660866, ss5292245769, ss5314436676, ss5486848251, ss5590478261, ss5758507384, ss5813648630, ss5850548499, ss5906036633	NC_000012.12:111446803:T:C	NC_000012.12:111446803:T:C	(self)
ss12197488	NT_009775.13:671486:T:C	NC_000012.12:111446803:T:C	(self)
ss4407266, ss6574914, ss24356019, ss38897343, ss65727371, ss66778536, ss67292465, ss67696215, ss69120710, ss70771054, ss71346346, ss74806086, ss75780868, ss79159798, ss84156484, ss86270293, ss97341403, ss105122245, ss120037231, ss122178896, ss132063107, ss154256485, ss157912584, ss159433052, ss159727254, ss171558443, ss173572827, ss469415430, ss469996452	NT_009775.17:2461137:T:C	NC_000012.12:111446803:T:C	(self)
10033986002	NC_000012.12:111446803:T:G	NC_000012.12:111446803:T:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

162 citations for rs3184504

PMID	Title	Author	Year	Journal
17554260	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.	Todd JA et al.	2007	Nature genetics
18252225	On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.	Luca D et al.	2008	American journal of human genetics
18311140	Newly identified genetic risk variants for celiac disease related to the immune response.	Hunt KA et al.	2008	Nature genetics
18556337	Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).	Butty V et al.	2008	Diabetes
18713140	Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.	Dubois PC et al.	2008	Clinical and experimental immunology
18978792	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.	Cooper JD et al.	2008	Nature genetics
18987646	The expanding genetic overlap between multiple sclerosis and type I diabetes.		2009	Genes and immunity
19073967	Shared and distinct genetic variants in type 1 diabetes and celiac disease.	Smyth DJ et al.	2008	The New England journal of medicine
19168599	Type 1 diabetes in the BB rat: a polygenic disease.	Wallis RH et al.	2009	Diabetes
19198610	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Gudbjartsson DF et al.	2009	Nature genetics
19307593	Signals of recent positive selection in a worldwide sample of human populations.	Pickrell JK et al.	2009	Genome research
19430479	Genome-wide association study of blood pressure and hypertension.	Levy D et al.	2009	Nature genetics
19430480	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Barrett JC et al.	2009	Nature genetics
19430483	Genome-wide association study identifies eight loci associated with blood pressure.	Newton-Cheh C et al.	2009	Nature genetics
19648293	Replication of celiac disease UK genome-wide association study results in a US population.	Garner CP et al.	2009	Human molecular genetics
19693089	Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort.	Amundsen SS et al.	2010	Genes and immunity
19820697	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Soranzo N et al.	2009	Nature genetics
19860791	Genetic evidence for a role of IL33 in nasal polyposis.	Buysschaert ID et al.	2010	Allergy
19862010	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Ganesh SK et al.	2009	Nature genetics
19913121	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	Talmud PJ et al.	2009	American journal of human genetics
19951419	Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.	Carr EJ et al.	2009	BMC medical genetics
19956433	Genetics of coronary artery disease: focus on genome-wide association studies.	Baudhuin LM et al.	2009	American journal of translational research
20045101	Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.	Ferreira MA et al.	2010	American journal of human genetics
20112382	Confirmation of an association between rs6822844 at the Il2-Il21 region and multiple autoimmune diseases: evidence of a general susceptibility locus.	Maiti AK et al.	2010	Arthritis and rheumatism
20190752	Multiple common variants for celiac disease influencing immune gene expression.	Dubois PC et al.	2010	Nature genetics
20224392	Blood pressure and human genetic variation in the general population.	Arora P et al.	2010	Current opinion in cardiology
20425154	Genome-wide association studies: contribution of genomics to understanding blood pressure and essential hypertension.	Ehret GB et al.	2010	Current hypertension reports
20440292	Early identification of cardiovascular risk using genomics and proteomics.	Kullo IJ et al.	2010	Nature reviews. Cardiology
20453842	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.	Stahl EA et al.	2010	Nature genetics
20508602	The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.	Alcina A et al.	2010	Genes and immunity
20526340	Common variants in FOXP1 are associated with generalized vitiligo.	Jin Y et al.	2010	Nature genetics
20546165	The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.	Lavrikova EY et al.	2011	Pediatric diabetes
20560212	Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection.	Zhernakova A et al.	2010	American journal of human genetics
20587799	Genetics of type 1 diabetes: what's next?	Pociot F et al.	2010	Diabetes
20610812	The genetics of normal platelet reactivity.	Kunicki TJ et al.	2010	Blood
20647273	Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.	Hinks A et al.	2010	Annals of the rheumatic diseases
20729558	Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies.	Davies RW et al.	2010	Circulation. Cardiovascular genetics
20805105	Synthetic associations in the context of genome-wide association scan signals.	Orozco G et al.	2010	Human molecular genetics
20838585	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Smith EN et al.	2010	PLoS genetics
20854658	Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease.	Eyre S et al.	2010	Arthritis research & therapy
20885991	Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies.	Carey C et al.	2010	Expert opinion on medical diagnostics
20933377	Recent findings on genetics of systemic autoimmune diseases.	Delgado-Vega A et al.	2010	Current opinion in immunology
20948529	Recent findings in the genetics of blood pressure and hypertension traits.	Franceschini N et al.	2011	American journal of hypertension
20971364	A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.	Ripatti S et al.	2010	Lancet (London, England)
21045733	Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.	Ho JE et al.	2011	Journal of hypertension
21060006	Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.	Tomaszewski M et al.	2010	Hypertension (Dallas, Tex.
21060863	Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.	Ikram MK et al.	2010	PLoS genetics
21129164	The genetics of blood pressure and hypertension: the role of rare variation.	Doris PA et al.	2011	Cardiovascular therapeutics
21153663	Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.	Lo KS et al.	2011	Human genetics
21193429	Determinants of platelet count in humans.	Daly ME et al.	2011	Haematologica
21253569	Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?	Casto AM et al.	2011	PLoS genetics
21266329	Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs.	Morahan G et al.	2011	Diabetes
21270831	Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.	Reddy MV et al.	2011	Genes and immunity
21369780	Genome-wide association studies in atherosclerosis.	Sivapalaratnam S et al.	2011	Current atherosclerosis reports
21378095	Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.	Fox ER et al.	2011	Human molecular genetics
21378990	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Schunkert H et al.	2011	Nature genetics
21507254	Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease.	Ding K et al.	2011	BMC medical genetics
21533024	Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.	Paré G et al.	2011	PLoS genetics
21572416	Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.	Kato N et al.	2011	Nature genetics
21595938	Rheumatoid arthritis-associated polymorphisms are not protective against Alzheimer's disease.	Simmons CR et al.	2011	Molecular neurodegeneration
21738479	Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).	Reiner AP et al.	2011	PLoS genetics
21765104	Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.	Deshmukh HA et al.	2011	The Journal of rheumatology
21829388	Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.	Fehrmann RS et al.	2011	PLoS genetics
21829393	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Plagnol V et al.	2011	PLoS genetics
21852963	Pervasive sharing of genetic effects in autoimmune disease.	Cotsapas C et al.	2011	PLoS genetics
21860704	Implications of discoveries from genome-wide association studies in current cardiovascular practice.	Jeemon P et al.	2011	World journal of cardiology
21873553	Genetic analysis of adult-onset autoimmune diabetes.	Howson JM et al.	2011	Diabetes
21875899	Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour.	Peden JF et al.	2011	Human molecular genetics
21909115	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Ehret GB et al.	2011	Nature
21952740	Replication of association of the PTPRC gene with response to anti-tumor necrosis factor therapy in a large UK cohort.	Plant D et al.	2012	Arthritis and rheumatism
21971053	Genome-wide association study of coronary artery disease in the Japanese.	Takeuchi F et al.	2012	European journal of human genetics
21980299	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	Bradfield JP et al.	2011	PLoS genetics
22025373	Genetic variants and blood pressure in a population-based cohort: the Cardiovascular Risk in Young Finns study.	Oikonen M et al.	2011	Hypertension (Dallas, Tex.
22046141	Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.	Cunninghame Graham DS et al.	2011	PLoS genetics
22057235	Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.	Trynka G et al.	2011	Nature genetics
22087237	Improving the estimation of celiac disease sibling risk by non-HLA genes.	Izzo V et al.	2011	PloS one
22139419	New gene functions in megakaryopoiesis and platelet formation.	Gieger C et al.	2011	Nature
22140480	SNPs and other features as they predispose to complex disease: genome-wide predictive analysis of a quantitative phenotype for hypertension.	Won JH et al.	2011	PloS one
22144573	Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.	O'Donnell CJ et al.	2011	Circulation
22144904	Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans.	Rotival M et al.	2011	PLoS genetics
22151179	Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record.	Ding K et al.	2011	BMC cardiovascular disorders
22216278	Large scale association analysis identifies three susceptibility loci for coronary artery disease.	Saade S et al.	2011	PloS one
22277159	Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.	Guha S et al.	2012	Genome biology
22293688	1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.	Huang J et al.	2012	European journal of human genetics
22315323	Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes.	Steck AK et al.	2012	Diabetes
22328738	Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.	Bowes J et al.	2012	Annals of the rheumatic diseases
22363065	Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?	Cheng YC et al.	2012	Stroke
22493691	Novel associations for hypothyroidism include known autoimmune risk loci.	Eriksson N et al.	2012	PloS one
22525200	Pharmacogenetic implications for eight common blood pressure-associated single-nucleotide polymorphisms.	Hamrefors V et al.	2012	Journal of hypertension
22577522	Shared HLA Class II in Six Autoimmune Diseases in Latin America: A Meta-Analysis.	Cruz-Tapias P et al.	2012	Autoimmune diseases
22588700	Genetics of coronary artery disease in the 21st century.	Roberts R et al.	2012	Clinical cardiology
22848412	Genetic markers enhance coronary risk prediction in men: the MORGAM prospective cohorts.	Hughes MF et al.	2012	PloS one
22916186	ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population.	Lahut S et al.	2012	PloS one
23328882	Meta-analyses of four eosinophil related gene variants in coronary heart disease.	Lian J et al.	2013	Journal of thrombosis and thrombolysis
23417110	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	Tin A et al.	2013	Human genetics
23468967	Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies.	Bolton JL et al.	2013	PloS one
23840476	Identification of the tyrosine-protein phosphatase non-receptor type 2 as a rheumatoid arthritis susceptibility locus in europeans.	Cobb JE et al.	2013	PloS one
24219970	Common genetic variants do not associate with CAD in familial hypercholesterolemia.	van Iperen EP et al.	2014	European journal of human genetics
24274136	Biobanking across the phenome - at the center of chronic disease research.	Imboden M et al.	2013	BMC public health
24768677	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.	de Boer YS et al.	2014	Gastroenterology
24931982	GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database.	Leslie R et al.	2014	Bioinformatics (Oxford, England)
24932356	Genetics of coronary artery disease: an update.	Roberts R et al.	2014	Methodist DeBakey cardiovascular journal
24936253	12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?	Auburger G et al.	2014	World journal of diabetes
24987407	eMERGEing progress in genomics-the first seven years.	Crawford DC et al.	2014	Frontiers in genetics
25009551	The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.	Kullo IJ et al.	2014	Frontiers in genetics
25422107	Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study.	Törn C et al.	2015	Diabetes
25542012	Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study.	Franceschini N et al.	2014	PloS one
25785607	A meta-analysis of gene expression signatures of blood pressure and hypertension.	Huan T et al.	2015	PLoS genetics
25920553	Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.	Coleman C et al.	2016	European journal of human genetics
26293461	Prediction of Causal Candidate Genes in Coronary Artery Disease Loci.	Brænne I et al.	2015	Arteriosclerosis, thrombosis, and vascular biology
26319099	Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer.	Hung RJ et al.	2015	Journal of the National Cancer Institute
26553438	Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.	Timofeeva MN et al.	2015	Scientific reports
26652023	Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population.	Migita K et al.	2015	BMC research notes
26677855	Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity.	Fortney K et al.	2015	PLoS genetics
26843707	Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.	Saadah OI et al.	2015	Disease markers
26847647	Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.	Guo Y et al.	2016	Cardiovascular drugs and therapy
26870082	Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.	Shen C et al.	2016	Frontiers in genetics
26891449	Total and Differential Leukocyte Counts in Relation to Incidence of Diabetes Mellitus: A Prospective Population-Based Cohort Study.	Borné Y et al.	2016	PloS one
26892960	From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.	Nurnberg ST et al.	2016	Circulation research
26904692	Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.	Brorsson CA et al.	2016	Journal of diabetes research
26950853	Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium.	Dehghan A et al.	2016	PloS one
26958643	Detailed analysis of association between common single nucleotide polymorphisms and subclinical atherosclerosis: The Multi-ethnic Study of Atherosclerosis.	Vargas JD et al.	2016	Data in brief
26974007	Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.	Ellinghaus D et al.	2016	Nature genetics
27015805	Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants.	Pilling LC et al.	2016	Aging
27111338	The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms.	Chen Y et al.	2016	PloS one
27189168	The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.	Kessler T et al.	2016	EMBO molecular medicine
27274049	Early farmers from across Europe directly descended from Neolithic Aegeans.	Hofmanová Z et al.	2016	Proceedings of the National Academy of Sciences of the United States of America
27294088	Genetics of the acute coronary syndrome.	Franchini M et al.	2016	Annals of translational medicine
27313952	The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach.	Saeb AT et al.	2016	Scientifica
27365426	Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.	Hinds DA et al.	2016	Blood
27736895	Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans.	Franceschini N et al.	2016	PloS one
28107422	Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.	de Vries PS et al.	2017	PloS one
28209224	Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.	Webb TR et al.	2017	Journal of the American College of Cardiology
28382505	Association of established hypothyroidism-associated genetic variants with Hashimoto's thyroiditis.	Barić A et al.	2017	Journal of endocrinological investigation
28449694	The MHC locus and genetic susceptibility to autoimmune and infectious diseases.	Matzaraki V et al.	2017	Genome biology
28520980	Can Non-HLA Single Nucleotide Polymorphisms Help Stratify Risk in TrialNet Relatives at Risk for Type 1 Diabetes?	Steck AK et al.	2017	The Journal of clinical endocrinology and metabolism
28641622	[Variation of LNK Gene in Chronic Myeloid Leukemia].	Tan M et al.	2017	Zhongguo shi yan xue ye xue za zhi
28686695	Coronary artery disease-associated genetic variants and biomarkers of inflammation.	Christiansen MK et al.	2017	PloS one
28703133	Association of autoimmune hepatitis with Src homology 2 adaptor protein 3 gene polymorphisms in Japanese patients.	Umemura T et al.	2017	Journal of human genetics
28865245	The SH2B3 and KCNK5 loci may be implicated in regulation of platelet count, volume, and maturity.	Christiansen MK et al.	2017	Thrombosis research
28901565	Review article: next-generation transformative advances in the pathogenesis and management of autoimmune hepatitis.	Czaja AJ et al.	2017	Alimentary pharmacology & therapeutics
29018046	Co-occurrence of Type 1 Diabetes and Celiac Disease Autoimmunity.	Hagopian W et al.	2017	Pediatrics
29080005	Correction to: Respiratory infections are temporally associated with initiation of type 1 diabetes autoimmunity: the TEDDY study.	Lönnrot M et al.	2018	Diabetologia
29176593	Shared genetic etiology of hypertension and stroke: evidence from bioinformatics analysis of genome-wide association studies.	Ji LD et al.	2017	Journal of human hypertension
29397849	[Variation and Clinical Significance of LNK Gene in Essential Thrombocytosis].	Tian RM et al.	2018	Zhongguo shi yan xue ye xue za zhi
29547645	Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population.	Jiao X et al.	2018	PloS one
30065929	Integrating Genes Affecting Coronary Artery Disease in Functional Networks by Multi-OMICs Approach.	Vilne B et al.	2018	Frontiers in cardiovascular medicine
30291855	Association of STAT4, TGFβ1, SH2B3 and PTPN22 polymorphisms with autoimmune hepatitis.	Chaouali M et al.	2018	Experimental and molecular pathology
30888520	Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.	Johnson MB et al.	2019	Current diabetes reports
31428775	The Longevity-Associated SH2B3 (LNK) Genetic Variant: Selected Aging Phenotypes in 379,758 Subjects.	Kuo CL et al.	2020	The journals of gerontology. Series A, Biological sciences and medical sciences
31456518	Identification of Phosphorylation Associated SNPs for Blood Pressure, Coronary Artery Disease and Stroke from Genome-wide Association Studies.	Wang X et al.	2019	Current molecular medicine
31624844	Phosphorylation-related SNPs influence lipid levels and rheumatoid arthritis risk by altering gene expression and plasma protein levels.	Mo X et al.	2020	Rheumatology (Oxford, England)
31845553	Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses.	Spiller W et al.	2020	Korean circulation journal
32148083	White Blood Cells and Blood Pressure: A Mendelian Randomization Study.	Siedlinski M et al.	2020	Circulation
32343833
32769997	GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.	Zhou W et al.	2020	Nature communications
32823753	Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts.	Calender A et al.	2020	Journal of clinical medicine
32928932	Genetic Colorectal Cancer and Adenoma Risk Variants Are Associated with Increasing Cumulative Adenoma Counts.	Sullivan BA et al.	2020	Cancer epidemiology, biomarkers & prevention
34341450	The genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene.	Bagheri M et al.	2021	Scientific reports
34740959	The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.	Allenspach EJ et al.	2021	Journal of immunology (Baltimore, Md.
34919578	In vivo identification and validation of novel potential predictors for human cardiovascular diseases.	Hammouda OT et al.	2021	PloS one
35088123	Genetics of rheumatoid arthritis.	Padyukov L et al.	2022	Seminars in immunopathology

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3184504