Name: rs7141420
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.

rs7141420

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:79433111 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.438717 (116124/264690, TOPMED)
C=0.462595 (104776/226496, ALFA)
C=0.468373 (96052/205076, GENOGRAPHIC) (+ 21 more)
C=0.441812 (61836/139960, GnomAD)
T=0.35084 (9914/28258, 14KJPN)
T=0.35227 (5904/16760, 8.3KJPN)
C=0.4316 (2764/6404, 1000G_30x)
C=0.4375 (2191/5008, 1000G)
C=0.4424 (1982/4480, Estonian)
C=0.4961 (1912/3854, ALSPAC)
C=0.4682 (1736/3708, TWINSUK)
T=0.3980 (1163/2922, KOREAN)
C=0.4476 (932/2082, HGDP_Stanford)
C=0.4709 (889/1888, HapMap)
T=0.4050 (742/1832, Korea1K)
C=0.4330 (491/1134, Daghestan)
T=0.491 (490/998, GoNL)
C=0.497 (298/600, NorthernSweden)
C=0.304 (135/444, SGDP_PRJ)
C=0.417 (90/216, Qatari)
C=0.463 (99/214, Vietnamese)
C=0.41 (22/54, Ancient Sardinia)
C=0.28 (13/46, Siberian)
T=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NRXN3 : Intron Variant
Publications: 4 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	226496	C=0.462595	T=0.537405
European	Sub	192032	C=0.472078	T=0.527922
African	Sub	10820	C=0.41275	T=0.58725
African Others	Sub	360	C=0.386	T=0.614
African American	Sub	10460	C=0.41367	T=0.58633
Asian	Sub	796	C=0.545	T=0.455
East Asian	Sub	618	C=0.573	T=0.427
Other Asian	Sub	178	C=0.449	T=0.551
Latin American 1	Sub	990	C=0.432	T=0.568
Latin American 2	Sub	9060	C=0.3425	T=0.6575
South Asian	Sub	5056	C=0.4248	T=0.5752
Other	Sub	7742	C=0.4576	T=0.5424

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
TopMed	Global	Study-wide	264690	C=0.438717	T=0.561283
Allele Frequency Aggregator	Total	Global	226496	C=0.462595	T=0.537405
Allele Frequency Aggregator	European	Sub	192032	C=0.472078	T=0.527922
Allele Frequency Aggregator	African	Sub	10820	C=0.41275	T=0.58725
Allele Frequency Aggregator	Latin American 2	Sub	9060	C=0.3425	T=0.6575
Allele Frequency Aggregator	Other	Sub	7742	C=0.4576	T=0.5424
Allele Frequency Aggregator	South Asian	Sub	5056	C=0.4248	T=0.5752
Allele Frequency Aggregator	Latin American 1	Sub	990	C=0.432	T=0.568
Allele Frequency Aggregator	Asian	Sub	796	C=0.545	T=0.455
Genographic Project	Global	Study-wide	205076	C=0.468373	T=0.531627
gnomAD - Genomes	Global	Study-wide	139960	C=0.441812	T=0.558188
gnomAD - Genomes	European	Sub	75824	C=0.46381	T=0.53619
gnomAD - Genomes	African	Sub	41912	C=0.41036	T=0.58964
gnomAD - Genomes	American	Sub	13624	C=0.37441	T=0.62559
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.5102	T=0.4898
gnomAD - Genomes	East Asian	Sub	3128	C=0.5527	T=0.4473
gnomAD - Genomes	Other	Sub	2150	C=0.4391	T=0.5609
14KJPN	JAPANESE	Study-wide	28258	C=0.64916	T=0.35084
8.3KJPN	JAPANESE	Study-wide	16760	C=0.64773	T=0.35227
1000Genomes_30x	Global	Study-wide	6404	C=0.4316	T=0.5684
1000Genomes_30x	African	Sub	1786	C=0.3852	T=0.6148
1000Genomes_30x	Europe	Sub	1266	C=0.4668	T=0.5332
1000Genomes_30x	South Asian	Sub	1202	C=0.4093	T=0.5907
1000Genomes_30x	East Asian	Sub	1170	C=0.5641	T=0.4359
1000Genomes_30x	American	Sub	980	C=0.340	T=0.660
1000Genomes	Global	Study-wide	5008	C=0.4375	T=0.5625
1000Genomes	African	Sub	1322	C=0.3828	T=0.6172
1000Genomes	East Asian	Sub	1008	C=0.5685	T=0.4315
1000Genomes	Europe	Sub	1006	C=0.4702	T=0.5298
1000Genomes	South Asian	Sub	978	C=0.413	T=0.587
1000Genomes	American	Sub	694	C=0.339	T=0.661
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4424	T=0.5576
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4961	T=0.5039
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4682	T=0.5318
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.6020	G=0.0000, T=0.3980
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.4476	T=0.5524
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	C=0.504	T=0.496
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.428	T=0.572
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.463	T=0.537
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.466	T=0.534
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.459	T=0.541
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.259	T=0.741
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.57	T=0.43
HapMap	Global	Study-wide	1888	C=0.4709	T=0.5291
HapMap	American	Sub	766	C=0.454	T=0.546
HapMap	African	Sub	692	C=0.413	T=0.587
HapMap	Asian	Sub	254	C=0.646	T=0.354
HapMap	Europe	Sub	176	C=0.517	T=0.483
Korean Genome Project	KOREAN	Study-wide	1832	C=0.5950	T=0.4050
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.4330	T=0.5670
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.414	T=0.586
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.493	T=0.507
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.484	T=0.516
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.454	T=0.546
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.42	T=0.58
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.33	T=0.67
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.509	T=0.491
Northern Sweden	ACPOP	Study-wide	600	C=0.497	T=0.503
SGDP_PRJ	Global	Study-wide	444	C=0.304	T=0.696
Qatari	Global	Study-wide	216	C=0.417	T=0.583
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.463	T=0.537
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	C=0.41	T=0.59
Siberian	Global	Study-wide	46	C=0.28	T=0.72
The Danish reference pan genome	Danish	Study-wide	40	C=0.55	T=0.45

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 14	NC_000014.9:g.79433111C>G
GRCh38.p14 chr 14	NC_000014.9:g.79433111C>T
GRCh37.p13 chr 14	NC_000014.8:g.79899454C>G
GRCh37.p13 chr 14	NC_000014.8:g.79899454C>T
NRXN3 RefSeqGene	NG_052991.1:g.1267739C>G
NRXN3 RefSeqGene	NG_052991.1:g.1267739C>T

Gene: NRXN3, neurexin 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NRXN3 transcript variant 3	NM_001105250.3:c.248-3411… NM_001105250.3:c.248-34110C>G	N/A	Intron Variant
NRXN3 transcript variant 4	NM_001272020.2:c.248-3411… NM_001272020.2:c.248-34110C>G	N/A	Intron Variant
NRXN3 transcript variant 7	NM_001330195.2:c.3263-341… NM_001330195.2:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant 9	NM_001366425.1:c.3263-341… NM_001366425.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant 10	NM_001366426.1:c.3275-341… NM_001366426.1:c.3275-34110C>G	N/A	Intron Variant
NRXN3 transcript variant 1	NM_004796.6:c.2144-34110C… NM_004796.6:c.2144-34110C>G	N/A	Intron Variant
NRXN3 transcript variant 2	NM_138970.5:c.248-34110C>G	N/A	Intron Variant
NRXN3 transcript variant 5	NR_073546.2:n.	N/A	Intron Variant
NRXN3 transcript variant 6	NR_073547.2:n.	N/A	Intron Variant
NRXN3 transcript variant 8	NR_158973.1:n.	N/A	Intron Variant
NRXN3 transcript variant 11	NR_158974.1:n.	N/A	Intron Variant
NRXN3 transcript variant 12	NR_158975.1:n.	N/A	Intron Variant
NRXN3 transcript variant X2	XM_005268218.4:c.3299-341… XM_005268218.4:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X3	XM_006720322.3:c.3287-341… XM_006720322.3:c.3287-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X1	XM_011537363.2:c.3299-341… XM_011537363.2:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X4	XM_011537366.2:c.3275-341… XM_011537366.2:c.3275-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X15	XM_011537368.2:c.3299-341… XM_011537368.2:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X16	XM_011537369.2:c.3299-341… XM_011537369.2:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X19	XM_011537370.2:c.3275-341… XM_011537370.2:c.3275-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X27	XM_011537371.2:c.3299-341… XM_011537371.2:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X28	XM_011537372.2:c.3299-341… XM_011537372.2:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X6	XM_017021794.2:c.3263-341… XM_017021794.2:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X8	XM_017021798.2:c.3236-341… XM_017021798.2:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X10	XM_017021799.3:c.3299-341… XM_017021799.3:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X23	XM_017021800.2:c.3299-341… XM_017021800.2:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X31	XM_017021805.2:c.3263-341… XM_017021805.2:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X13	XM_024449751.2:c.3236-341… XM_024449751.2:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X44	XM_024449752.2:c.3287-341… XM_024449752.2:c.3287-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X37	XM_024449753.2:c.3236-341… XM_024449753.2:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X5	XM_047431939.1:c.3275-341… XM_047431939.1:c.3275-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X7	XM_047431940.1:c.3263-341… XM_047431940.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X9	XM_047431941.1:c.3236-341… XM_047431941.1:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X11	XM_047431942.1:c.3263-341… XM_047431942.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X12	XM_047431943.1:c.3263-341… XM_047431943.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X14	XM_047431944.1:c.3236-341… XM_047431944.1:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X17	XM_047431945.1:c.3287-341… XM_047431945.1:c.3287-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X18	XM_047431946.1:c.3275-341… XM_047431946.1:c.3275-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X20	XM_047431947.1:c.3263-341… XM_047431947.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X21	XM_047431948.1:c.3236-341… XM_047431948.1:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X22	XM_047431949.1:c.3236-341… XM_047431949.1:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X24	XM_047431950.1:c.3287-341… XM_047431950.1:c.3287-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X25	XM_047431951.1:c.3287-341… XM_047431951.1:c.3287-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X26	XM_047431952.1:c.3263-341… XM_047431952.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X29	XM_047431953.1:c.3275-341… XM_047431953.1:c.3275-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X30	XM_047431954.1:c.3263-341… XM_047431954.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X32	XM_047431955.1:c.3236-341… XM_047431955.1:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X33	XM_047431956.1:c.3236-341… XM_047431956.1:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X34	XM_047431957.1:c.3287-341… XM_047431957.1:c.3287-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X35	XM_047431958.1:c.3263-341… XM_047431958.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X36	XM_047431959.1:c.3263-341… XM_047431959.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X38	XM_047431960.1:c.3299-341… XM_047431960.1:c.3299-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X39	XM_047431961.1:c.3287-341… XM_047431961.1:c.3287-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X40	XM_047431963.1:c.3236-341… XM_047431963.1:c.3236-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X42	XM_047431964.1:c.3263-341… XM_047431964.1:c.3263-34110C>G	N/A	Intron Variant
NRXN3 transcript variant X41	XR_001750609.1:n.	N/A	Intron Variant
NRXN3 transcript variant X43	XR_007064051.1:n.	N/A	Intron 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.

Not Reported in ClinVar

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	C=	G	T
GRCh38.p14 chr 14	NC_000014.9:g.79433111=	NC_000014.9:g.79433111C>G	NC_000014.9:g.79433111C>T
GRCh37.p13 chr 14	NC_000014.8:g.79899454=	NC_000014.8:g.79899454C>G	NC_000014.8:g.79899454C>T
NRXN3 RefSeqGene	NG_052991.1:g.1267739=	NG_052991.1:g.1267739C>G	NG_052991.1:g.1267739C>T
NRXN3 transcript variant 3	NM_001105250.2:c.248-34110=	NM_001105250.2:c.248-34110C>G	NM_001105250.2:c.248-34110C>T
NRXN3 transcript variant 3	NM_001105250.3:c.248-34110=	NM_001105250.3:c.248-34110C>G	NM_001105250.3:c.248-34110C>T
NRXN3 transcript variant 4	NM_001272020.1:c.248-34110=	NM_001272020.1:c.248-34110C>G	NM_001272020.1:c.248-34110C>T
NRXN3 transcript variant 4	NM_001272020.2:c.248-34110=	NM_001272020.2:c.248-34110C>G	NM_001272020.2:c.248-34110C>T
NRXN3 transcript variant 7	NM_001330195.2:c.3263-34110=	NM_001330195.2:c.3263-34110C>G	NM_001330195.2:c.3263-34110C>T
NRXN3 transcript variant 9	NM_001366425.1:c.3263-34110=	NM_001366425.1:c.3263-34110C>G	NM_001366425.1:c.3263-34110C>T
NRXN3 transcript variant 10	NM_001366426.1:c.3275-34110=	NM_001366426.1:c.3275-34110C>G	NM_001366426.1:c.3275-34110C>T
NRXN3 transcript variant 1	NM_004796.5:c.2144-34110=	NM_004796.5:c.2144-34110C>G	NM_004796.5:c.2144-34110C>T
NRXN3 transcript variant 1	NM_004796.6:c.2144-34110=	NM_004796.6:c.2144-34110C>G	NM_004796.6:c.2144-34110C>T
NRXN3 transcript variant 2	NM_138970.4:c.248-34110=	NM_138970.4:c.248-34110C>G	NM_138970.4:c.248-34110C>T
NRXN3 transcript variant 2	NM_138970.5:c.248-34110=	NM_138970.5:c.248-34110C>G	NM_138970.5:c.248-34110C>T
NRXN3 transcript variant X1	XM_005268218.1:c.3299-34110=	XM_005268218.1:c.3299-34110C>G	XM_005268218.1:c.3299-34110C>T
NRXN3 transcript variant X2	XM_005268218.4:c.3299-34110=	XM_005268218.4:c.3299-34110C>G	XM_005268218.4:c.3299-34110C>T
NRXN3 transcript variant X3	XM_006720322.3:c.3287-34110=	XM_006720322.3:c.3287-34110C>G	XM_006720322.3:c.3287-34110C>T
NRXN3 transcript variant X1	XM_011537363.2:c.3299-34110=	XM_011537363.2:c.3299-34110C>G	XM_011537363.2:c.3299-34110C>T
NRXN3 transcript variant X4	XM_011537366.2:c.3275-34110=	XM_011537366.2:c.3275-34110C>G	XM_011537366.2:c.3275-34110C>T
NRXN3 transcript variant X15	XM_011537368.2:c.3299-34110=	XM_011537368.2:c.3299-34110C>G	XM_011537368.2:c.3299-34110C>T
NRXN3 transcript variant X16	XM_011537369.2:c.3299-34110=	XM_011537369.2:c.3299-34110C>G	XM_011537369.2:c.3299-34110C>T
NRXN3 transcript variant X19	XM_011537370.2:c.3275-34110=	XM_011537370.2:c.3275-34110C>G	XM_011537370.2:c.3275-34110C>T
NRXN3 transcript variant X27	XM_011537371.2:c.3299-34110=	XM_011537371.2:c.3299-34110C>G	XM_011537371.2:c.3299-34110C>T
NRXN3 transcript variant X28	XM_011537372.2:c.3299-34110=	XM_011537372.2:c.3299-34110C>G	XM_011537372.2:c.3299-34110C>T
NRXN3 transcript variant X6	XM_017021794.2:c.3263-34110=	XM_017021794.2:c.3263-34110C>G	XM_017021794.2:c.3263-34110C>T
NRXN3 transcript variant X8	XM_017021798.2:c.3236-34110=	XM_017021798.2:c.3236-34110C>G	XM_017021798.2:c.3236-34110C>T
NRXN3 transcript variant X10	XM_017021799.3:c.3299-34110=	XM_017021799.3:c.3299-34110C>G	XM_017021799.3:c.3299-34110C>T
NRXN3 transcript variant X23	XM_017021800.2:c.3299-34110=	XM_017021800.2:c.3299-34110C>G	XM_017021800.2:c.3299-34110C>T
NRXN3 transcript variant X31	XM_017021805.2:c.3263-34110=	XM_017021805.2:c.3263-34110C>G	XM_017021805.2:c.3263-34110C>T
NRXN3 transcript variant X13	XM_024449751.2:c.3236-34110=	XM_024449751.2:c.3236-34110C>G	XM_024449751.2:c.3236-34110C>T
NRXN3 transcript variant X44	XM_024449752.2:c.3287-34110=	XM_024449752.2:c.3287-34110C>G	XM_024449752.2:c.3287-34110C>T
NRXN3 transcript variant X37	XM_024449753.2:c.3236-34110=	XM_024449753.2:c.3236-34110C>G	XM_024449753.2:c.3236-34110C>T
NRXN3 transcript variant X5	XM_047431939.1:c.3275-34110=	XM_047431939.1:c.3275-34110C>G	XM_047431939.1:c.3275-34110C>T
NRXN3 transcript variant X7	XM_047431940.1:c.3263-34110=	XM_047431940.1:c.3263-34110C>G	XM_047431940.1:c.3263-34110C>T
NRXN3 transcript variant X9	XM_047431941.1:c.3236-34110=	XM_047431941.1:c.3236-34110C>G	XM_047431941.1:c.3236-34110C>T
NRXN3 transcript variant X11	XM_047431942.1:c.3263-34110=	XM_047431942.1:c.3263-34110C>G	XM_047431942.1:c.3263-34110C>T
NRXN3 transcript variant X12	XM_047431943.1:c.3263-34110=	XM_047431943.1:c.3263-34110C>G	XM_047431943.1:c.3263-34110C>T
NRXN3 transcript variant X14	XM_047431944.1:c.3236-34110=	XM_047431944.1:c.3236-34110C>G	XM_047431944.1:c.3236-34110C>T
NRXN3 transcript variant X17	XM_047431945.1:c.3287-34110=	XM_047431945.1:c.3287-34110C>G	XM_047431945.1:c.3287-34110C>T
NRXN3 transcript variant X18	XM_047431946.1:c.3275-34110=	XM_047431946.1:c.3275-34110C>G	XM_047431946.1:c.3275-34110C>T
NRXN3 transcript variant X20	XM_047431947.1:c.3263-34110=	XM_047431947.1:c.3263-34110C>G	XM_047431947.1:c.3263-34110C>T
NRXN3 transcript variant X21	XM_047431948.1:c.3236-34110=	XM_047431948.1:c.3236-34110C>G	XM_047431948.1:c.3236-34110C>T
NRXN3 transcript variant X22	XM_047431949.1:c.3236-34110=	XM_047431949.1:c.3236-34110C>G	XM_047431949.1:c.3236-34110C>T
NRXN3 transcript variant X24	XM_047431950.1:c.3287-34110=	XM_047431950.1:c.3287-34110C>G	XM_047431950.1:c.3287-34110C>T
NRXN3 transcript variant X25	XM_047431951.1:c.3287-34110=	XM_047431951.1:c.3287-34110C>G	XM_047431951.1:c.3287-34110C>T
NRXN3 transcript variant X26	XM_047431952.1:c.3263-34110=	XM_047431952.1:c.3263-34110C>G	XM_047431952.1:c.3263-34110C>T
NRXN3 transcript variant X29	XM_047431953.1:c.3275-34110=	XM_047431953.1:c.3275-34110C>G	XM_047431953.1:c.3275-34110C>T
NRXN3 transcript variant X30	XM_047431954.1:c.3263-34110=	XM_047431954.1:c.3263-34110C>G	XM_047431954.1:c.3263-34110C>T
NRXN3 transcript variant X32	XM_047431955.1:c.3236-34110=	XM_047431955.1:c.3236-34110C>G	XM_047431955.1:c.3236-34110C>T
NRXN3 transcript variant X33	XM_047431956.1:c.3236-34110=	XM_047431956.1:c.3236-34110C>G	XM_047431956.1:c.3236-34110C>T
NRXN3 transcript variant X34	XM_047431957.1:c.3287-34110=	XM_047431957.1:c.3287-34110C>G	XM_047431957.1:c.3287-34110C>T
NRXN3 transcript variant X35	XM_047431958.1:c.3263-34110=	XM_047431958.1:c.3263-34110C>G	XM_047431958.1:c.3263-34110C>T
NRXN3 transcript variant X36	XM_047431959.1:c.3263-34110=	XM_047431959.1:c.3263-34110C>G	XM_047431959.1:c.3263-34110C>T
NRXN3 transcript variant X38	XM_047431960.1:c.3299-34110=	XM_047431960.1:c.3299-34110C>G	XM_047431960.1:c.3299-34110C>T
NRXN3 transcript variant X39	XM_047431961.1:c.3287-34110=	XM_047431961.1:c.3287-34110C>G	XM_047431961.1:c.3287-34110C>T
NRXN3 transcript variant X40	XM_047431963.1:c.3236-34110=	XM_047431963.1:c.3236-34110C>G	XM_047431963.1:c.3236-34110C>T
NRXN3 transcript variant X42	XM_047431964.1:c.3263-34110=	XM_047431964.1:c.3263-34110C>G	XM_047431964.1:c.3263-34110C>T

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#.

137 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10724089	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss16633110	Feb 27, 2004 (120)
3	PERLEGEN	ss24604035	Sep 20, 2004 (123)
4	ABI	ss43661414	Mar 13, 2006 (126)
5	AFFY	ss66315426	Dec 01, 2006 (127)
6	ILLUMINA	ss67545904	Dec 01, 2006 (127)
7	ILLUMINA	ss67919532	Dec 01, 2006 (127)
8	ILLUMINA	ss68270565	Dec 12, 2006 (127)
9	PERLEGEN	ss69163409	May 17, 2007 (127)
10	ILLUMINA	ss70910977	May 24, 2008 (130)
11	ILLUMINA	ss71508645	May 17, 2007 (127)
12	ILLUMINA	ss75674223	Dec 07, 2007 (129)
13	AFFY	ss75999267	Dec 08, 2007 (130)
14	KRIBB_YJKIM	ss84622985	Dec 15, 2007 (130)
15	BCMHGSC_JDW	ss90006753	Mar 24, 2008 (129)
16	HUMANGENOME_JCVI	ss96930423	Feb 04, 2009 (130)
17	BGI	ss106400922	Feb 04, 2009 (130)
18	1000GENOMES	ss108486789	Jan 23, 2009 (130)
19	1000GENOMES	ss113580537	Jan 25, 2009 (130)
20	ILLUMINA-UK	ss118611769	Feb 14, 2009 (130)
21	ENSEMBL	ss132346013	Dec 01, 2009 (131)
22	ENSEMBL	ss134068983	Dec 01, 2009 (131)
23	ILLUMINA	ss154407235	Dec 01, 2009 (131)
24	ILLUMINA	ss159582376	Dec 01, 2009 (131)
25	ILLUMINA	ss160851915	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss168371212	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss170031261	Jul 04, 2010 (132)
28	AFFY	ss170212038	Jul 04, 2010 (132)
29	ILLUMINA	ss174258659	Jul 04, 2010 (132)
30	BUSHMAN	ss200307204	Jul 04, 2010 (132)
31	1000GENOMES	ss226670012	Jul 14, 2010 (132)
32	1000GENOMES	ss236616671	Jul 15, 2010 (132)
33	1000GENOMES	ss243036213	Jul 15, 2010 (132)
34	BL	ss255132687	May 09, 2011 (134)
35	GMI	ss282077355	May 04, 2012 (137)
36	GMI	ss286875876	Apr 25, 2013 (138)
37	PJP	ss291636205	May 09, 2011 (134)
38	ILLUMINA	ss410946945	Sep 17, 2011 (135)
39	ILLUMINA	ss481479050	May 04, 2012 (137)
40	ILLUMINA	ss481507310	May 04, 2012 (137)
41	ILLUMINA	ss482485228	Sep 08, 2015 (146)
42	ILLUMINA	ss485534745	May 04, 2012 (137)
43	ILLUMINA	ss537440214	Sep 08, 2015 (146)
44	TISHKOFF	ss564210906	Apr 25, 2013 (138)
45	SSMP	ss659903040	Apr 25, 2013 (138)
46	ILLUMINA	ss778965363	Sep 08, 2015 (146)
47	ILLUMINA	ss783212890	Sep 08, 2015 (146)
48	ILLUMINA	ss784167565	Sep 08, 2015 (146)
49	ILLUMINA	ss832473032	Sep 08, 2015 (146)
50	ILLUMINA	ss833093424	Jul 13, 2019 (153)
51	ILLUMINA	ss834427348	Sep 08, 2015 (146)
52	EVA-GONL	ss991351423	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1079806826	Aug 21, 2014 (142)
54	1000GENOMES	ss1351776144	Aug 21, 2014 (142)
55	HAMMER_LAB	ss1397685943	Sep 08, 2015 (146)
56	DDI	ss1427481208	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1577374332	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1632153253	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1675147286	Apr 01, 2015 (144)
60	EVA_DECODE	ss1695357831	Apr 01, 2015 (144)
61	EVA_SVP	ss1713459635	Apr 01, 2015 (144)
62	ILLUMINA	ss1752144035	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1808003753	Sep 08, 2015 (146)
64	WEILL_CORNELL_DGM	ss1934722750	Feb 12, 2016 (147)
65	GENOMED	ss1968007184	Jul 19, 2016 (147)
66	JJLAB	ss2028143471	Sep 14, 2016 (149)
67	CSHL	ss2136813759	Nov 08, 2017 (151)
68	USC_VALOUEV	ss2156522115	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2203582208	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2628561043	Nov 08, 2017 (151)
71	ILLUMINA	ss2633176491	Nov 08, 2017 (151)
72	GRF	ss2700955254	Nov 08, 2017 (151)
73	ILLUMINA	ss2710805793	Nov 08, 2017 (151)
74	GNOMAD	ss2929893632	Nov 08, 2017 (151)
75	AFFY	ss2985660025	Nov 08, 2017 (151)
76	SWEGEN	ss3012518473	Nov 08, 2017 (151)
77	ILLUMINA	ss3021587278	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3027897139	Nov 08, 2017 (151)
79	CSHL	ss3350896683	Nov 08, 2017 (151)
80	ILLUMINA	ss3625663554	Oct 12, 2018 (152)
81	ILLUMINA	ss3627265429	Oct 12, 2018 (152)
82	ILLUMINA	ss3631173103	Oct 12, 2018 (152)
83	ILLUMINA	ss3633083091	Oct 12, 2018 (152)
84	ILLUMINA	ss3633786849	Oct 12, 2018 (152)
85	ILLUMINA	ss3634586473	Oct 12, 2018 (152)
86	ILLUMINA	ss3635476183	Oct 12, 2018 (152)
87	ILLUMINA	ss3636275745	Oct 12, 2018 (152)
88	ILLUMINA	ss3637227356	Oct 12, 2018 (152)
89	ILLUMINA	ss3638061997	Oct 12, 2018 (152)
90	ILLUMINA	ss3639044422	Oct 12, 2018 (152)
91	ILLUMINA	ss3639831618	Oct 12, 2018 (152)
92	ILLUMINA	ss3640293800	Oct 12, 2018 (152)
93	ILLUMINA	ss3643047910	Oct 12, 2018 (152)
94	ILLUMINA	ss3643882040	Oct 12, 2018 (152)
95	URBANLAB	ss3650245923	Oct 12, 2018 (152)
96	ILLUMINA	ss3651982334	Oct 12, 2018 (152)
97	EGCUT_WGS	ss3679775423	Jul 13, 2019 (153)
98	EVA_DECODE	ss3697066090	Jul 13, 2019 (153)
99	ILLUMINA	ss3725464583	Jul 13, 2019 (153)
100	ACPOP	ss3740554279	Jul 13, 2019 (153)
101	ILLUMINA	ss3744887087	Jul 13, 2019 (153)
102	EVA	ss3752561866	Jul 13, 2019 (153)
103	ILLUMINA	ss3772385850	Jul 13, 2019 (153)
104	PACBIO	ss3787720287	Jul 13, 2019 (153)
105	PACBIO	ss3792749858	Jul 13, 2019 (153)
106	PACBIO	ss3797634253	Jul 13, 2019 (153)
107	KHV_HUMAN_GENOMES	ss3817887722	Jul 13, 2019 (153)
108	EVA	ss3834019946	Apr 27, 2020 (154)
109	EVA	ss3840600753	Apr 27, 2020 (154)
110	EVA	ss3846090550	Apr 27, 2020 (154)
111	HGDP	ss3847510006	Apr 27, 2020 (154)
112	SGDP_PRJ	ss3881911036	Apr 27, 2020 (154)
113	KRGDB	ss3930974725	Apr 27, 2020 (154)
114	KOGIC	ss3975322988	Apr 27, 2020 (154)
115	EVA	ss3985691893	Apr 26, 2021 (155)
116	EVA	ss4017680723	Apr 26, 2021 (155)
117	TOPMED	ss4977309877	Apr 26, 2021 (155)
118	TOMMO_GENOMICS	ss5214111492	Apr 26, 2021 (155)
119	EVA	ss5237543078	Apr 26, 2021 (155)
120	1000G_HIGH_COVERAGE	ss5296902219	Oct 17, 2022 (156)
121	GENOGRAPHIC	ss5314562034	Oct 17, 2022 (156)
122	EVA	ss5315752099	Oct 17, 2022 (156)
123	HUGCELL_USP	ss5490880652	Oct 17, 2022 (156)
124	EVA	ss5511310919	Oct 17, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5597517590	Oct 17, 2022 (156)
126	SANFORD_IMAGENETICS	ss5624349133	Oct 17, 2022 (156)
127	SANFORD_IMAGENETICS	ss5656604284	Oct 17, 2022 (156)
128	TOMMO_GENOMICS	ss5767172457	Oct 17, 2022 (156)
129	EVA	ss5799925636	Oct 17, 2022 (156)
130	YY_MCH	ss5814919931	Oct 17, 2022 (156)
131	EVA	ss5841379087	Oct 17, 2022 (156)
132	EVA	ss5847440849	Oct 17, 2022 (156)
133	EVA	ss5847727845	Oct 17, 2022 (156)
134	EVA	ss5851117711	Oct 17, 2022 (156)
135	EVA	ss5902121619	Oct 17, 2022 (156)
136	EVA	ss5948057151	Oct 17, 2022 (156)
137	EVA	ss5979447155	Oct 17, 2022 (156)
138	1000Genomes	NC_000014.8 - 79899454	Oct 12, 2018 (152)
139	1000Genomes_30x	NC_000014.9 - 79433111	Oct 17, 2022 (156)
140	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 79899454	Oct 12, 2018 (152)
141	Genome-wide autozygosity in Daghestan	NC_000014.7 - 78969207	Apr 27, 2020 (154)
142	Genetic variation in the Estonian population	NC_000014.8 - 79899454	Oct 12, 2018 (152)
143	Genographic Project	NC_000014.9 - 79433111	Oct 17, 2022 (156)
144	The Danish reference pan genome	NC_000014.8 - 79899454	Apr 27, 2020 (154)
145	gnomAD - Genomes	NC_000014.9 - 79433111	Apr 26, 2021 (155)
146	Genome of the Netherlands Release 5	NC_000014.8 - 79899454	Apr 27, 2020 (154)
147	HGDP-CEPH-db Supplement 1	NC_000014.7 - 78969207	Apr 27, 2020 (154)
148	HapMap	NC_000014.9 - 79433111	Apr 27, 2020 (154)
149	KOREAN population from KRGDB	NC_000014.8 - 79899454	Apr 27, 2020 (154)
150	Korean Genome Project	NC_000014.9 - 79433111	Apr 27, 2020 (154)
151	Northern Sweden	NC_000014.8 - 79899454	Jul 13, 2019 (153)
152	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000014.8 - 79899454	Apr 26, 2021 (155)
153	Qatari	NC_000014.8 - 79899454	Apr 27, 2020 (154)
154	SGDP_PRJ	NC_000014.8 - 79899454	Apr 27, 2020 (154)
155	Siberian	NC_000014.8 - 79899454	Apr 27, 2020 (154)
156	8.3KJPN	NC_000014.8 - 79899454	Apr 26, 2021 (155)
157	14KJPN	NC_000014.9 - 79433111	Oct 17, 2022 (156)
158	TopMed	NC_000014.9 - 79433111	Apr 26, 2021 (155)
159	UK 10K study - Twins	NC_000014.8 - 79899454	Oct 12, 2018 (152)
160	A Vietnamese Genetic Variation Database	NC_000014.8 - 79899454	Jul 13, 2019 (153)
161	ALFA	NC_000014.9 - 79433111	Apr 26, 2021 (155)

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)
rs17836032	Oct 08, 2004 (123)
rs56564860	May 24, 2008 (130)
rs58384212	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
38152119, ss3930974725	NC_000014.8:79899453:C:G	NC_000014.9:79433110:C:G	(self)
156237, 187898, ss66315426, ss75999267, ss90006753, ss108486789, ss113580537, ss118611769, ss168371212, ss170031261, ss170212038, ss200307204, ss255132687, ss282077355, ss286875876, ss291636205, ss481479050, ss1397685943, ss1695357831, ss1713459635, ss2136813759, ss3639044422, ss3639831618, ss3643047910, ss3643882040, ss3847510006	NC_000014.7:78969206:C:T	NC_000014.9:79433110:C:T	(self)
64786164, 36004825, 25513671, 3683807, 16076647, 38152119, 13839144, 917820, 16764680, 33928016, 9038469, 72080799, 36004825, 8007485, ss226670012, ss236616671, ss243036213, ss481507310, ss482485228, ss485534745, ss537440214, ss564210906, ss659903040, ss778965363, ss783212890, ss784167565, ss832473032, ss833093424, ss834427348, ss991351423, ss1079806826, ss1351776144, ss1427481208, ss1577374332, ss1632153253, ss1675147286, ss1752144035, ss1808003753, ss1934722750, ss1968007184, ss2028143471, ss2156522115, ss2628561043, ss2633176491, ss2700955254, ss2710805793, ss2929893632, ss2985660025, ss3012518473, ss3021587278, ss3350896683, ss3625663554, ss3627265429, ss3631173103, ss3633083091, ss3633786849, ss3634586473, ss3635476183, ss3636275745, ss3637227356, ss3638061997, ss3640293800, ss3651982334, ss3679775423, ss3740554279, ss3744887087, ss3752561866, ss3772385850, ss3787720287, ss3792749858, ss3797634253, ss3834019946, ss3840600753, ss3881911036, ss3930974725, ss3985691893, ss4017680723, ss5214111492, ss5237543078, ss5315752099, ss5511310919, ss5624349133, ss5656604284, ss5799925636, ss5841379087, ss5847440849, ss5847727845, ss5948057151, ss5979447155	NC_000014.8:79899453:C:T	NC_000014.9:79433110:C:T	(self)
85043525, 106885, 456773735, 1183432, 31700989, 101009561, 192855536, 12016791222, ss2203582208, ss3027897139, ss3650245923, ss3697066090, ss3725464583, ss3817887722, ss3846090550, ss3975322988, ss4977309877, ss5296902219, ss5314562034, ss5490880652, ss5597517590, ss5767172457, ss5814919931, ss5851117711, ss5902121619	NC_000014.9:79433110:C:T	NC_000014.9:79433110:C:T	(self)
ss10724089, ss16633110	NT_026437.10:59819494:C:T	NC_000014.9:79433110:C:T	(self)
ss24604035, ss43661414, ss67545904, ss67919532, ss68270565, ss69163409, ss70910977, ss71508645, ss75674223, ss84622985, ss96930423, ss106400922, ss132346013, ss134068983, ss154407235, ss159582376, ss160851915, ss174258659, ss410946945	NT_026437.12:60899453:C:T	NC_000014.9:79433110:C:T	(self)

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

4 citations for rs7141420

PMID	Title	Author	Year	Journal
26683835	Physical activity, smoking, and genetic predisposition to obesity in people from Pakistan: the PROMIS study.	Ahmad S et al.	2015	BMC medical genetics
27351487	Obesity and Multiple Sclerosis: A Mendelian Randomization Study.	Mokry LE et al.	2016	PLoS medicine
32492003	[The Role of Natural Selection in the Formation of the Genetic Structure of Populations by SNP Markers in Association with Body Mass Index and Obesity].	Trifonova EA et al.	2020	Molekuliarnaia biologiia
35124268	Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19.	Li J et al.	2022	Clinical gastroenterology and hepatology

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs7141420