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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs3006458

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:153347896 (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=0.198946 (52659/264690, TOPMED)
T=0.158966 (26376/165922, ALFA)
T=0.191211 (26771/140008, GnomAD) (+ 20 more)
T=0.26561 (7505/28256, 14KJPN)
T=0.26969 (4520/16760, 8.3KJPN)
T=0.19176 (2494/13006, GO-ESP)
T=0.2089 (1338/6404, 1000G_30x)
T=0.2059 (1031/5008, 1000G)
T=0.1268 (568/4480, Estonian)
T=0.1399 (539/3854, ALSPAC)
T=0.1472 (546/3708, TWINSUK)
T=0.3024 (886/2930, KOREAN)
T=0.3002 (550/1832, Korea1K)
T=0.2241 (364/1624, HapMap)
T=0.177 (177/998, GoNL)
T=0.263 (161/612, Vietnamese)
T=0.178 (107/600, NorthernSweden)
T=0.133 (71/534, MGP)
T=0.199 (102/512, SGDP_PRJ)
T=0.146 (44/302, FINRISK)
T=0.245 (53/216, Qatari)
T=0.15 (8/52, Siberian)
T=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PGLYRP4 : Missense Variant
Publications
2 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 182412 T=0.161464 C=0.000000, G=0.838536
European Sub 148302 T=0.147537 C=0.000000, G=0.852463
African Sub 8534 T=0.2907 C=0.0000, G=0.7093
African Others Sub 310 T=0.319 C=0.000, G=0.681
African American Sub 8224 T=0.2896 C=0.0000, G=0.7104
Asian Sub 3174 T=0.2854 C=0.0000, G=0.7146
East Asian Sub 1914 T=0.2800 C=0.0000, G=0.7200
Other Asian Sub 1260 T=0.2937 C=0.0000, G=0.7063
Latin American 1 Sub 570 T=0.179 C=0.000, G=0.821
Latin American 2 Sub 5448 T=0.2023 C=0.0000, G=0.7977
South Asian Sub 80 T=0.19 C=0.00, G=0.81
Other Sub 16304 T=0.18198 C=0.00000, G=0.81802


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.198946 G=0.801054
Allele Frequency Aggregator Total Global 165922 T=0.158966 C=0.000000, G=0.841034
Allele Frequency Aggregator European Sub 138094 T=0.147675 C=0.000000, G=0.852325
Allele Frequency Aggregator Other Sub 14854 T=0.18312 C=0.00000, G=0.81688
Allele Frequency Aggregator Latin American 2 Sub 5448 T=0.2023 C=0.0000, G=0.7977
Allele Frequency Aggregator African Sub 3702 T=0.3074 C=0.0000, G=0.6926
Allele Frequency Aggregator Asian Sub 3174 T=0.2854 C=0.0000, G=0.7146
Allele Frequency Aggregator Latin American 1 Sub 570 T=0.179 C=0.000, G=0.821
Allele Frequency Aggregator South Asian Sub 80 T=0.19 C=0.00, G=0.81
gnomAD - Genomes Global Study-wide 140008 T=0.191211 G=0.808789
gnomAD - Genomes European Sub 75874 T=0.14362 G=0.85638
gnomAD - Genomes African Sub 41908 T=0.28066 G=0.71934
gnomAD - Genomes American Sub 13648 T=0.16149 G=0.83851
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.1976 G=0.8024
gnomAD - Genomes East Asian Sub 3122 T=0.2764 G=0.7236
gnomAD - Genomes Other Sub 2136 T=0.1821 G=0.8179
14KJPN JAPANESE Study-wide 28256 T=0.26561 G=0.73439
8.3KJPN JAPANESE Study-wide 16760 T=0.26969 G=0.73031
GO Exome Sequencing Project Global Study-wide 13006 T=0.19176 G=0.80824
GO Exome Sequencing Project European American Sub 8600 T=0.1524 G=0.8476
GO Exome Sequencing Project African American Sub 4406 T=0.2685 G=0.7315
1000Genomes_30x Global Study-wide 6404 T=0.2089 G=0.7911
1000Genomes_30x African Sub 1786 T=0.3012 G=0.6988
1000Genomes_30x Europe Sub 1266 T=0.1382 G=0.8618
1000Genomes_30x South Asian Sub 1202 T=0.1547 G=0.8453
1000Genomes_30x East Asian Sub 1170 T=0.2564 G=0.7436
1000Genomes_30x American Sub 980 T=0.142 G=0.858
1000Genomes Global Study-wide 5008 T=0.2059 G=0.7941
1000Genomes African Sub 1322 T=0.2973 G=0.7027
1000Genomes East Asian Sub 1008 T=0.2589 G=0.7411
1000Genomes Europe Sub 1006 T=0.1272 G=0.8728
1000Genomes South Asian Sub 978 T=0.154 G=0.846
1000Genomes American Sub 694 T=0.141 G=0.859
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.1268 G=0.8732
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.1399 G=0.8601
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.1472 G=0.8528
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3024 A=0.0000, G=0.6976
Korean Genome Project KOREAN Study-wide 1832 T=0.3002 G=0.6998
HapMap Global Study-wide 1624 T=0.2241 G=0.7759
HapMap African Sub 686 T=0.284 G=0.716
HapMap American Sub 592 T=0.177 G=0.823
HapMap Europe Sub 176 T=0.097 G=0.903
HapMap Asian Sub 170 T=0.276 G=0.724
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.177 G=0.823
A Vietnamese Genetic Variation Database Global Study-wide 612 T=0.263 G=0.737
Northern Sweden ACPOP Study-wide 600 T=0.178 G=0.822
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.133 G=0.867
SGDP_PRJ Global Study-wide 512 T=0.199 G=0.801
FINRISK Finnish from FINRISK project Study-wide 302 T=0.146 G=0.854
Qatari Global Study-wide 216 T=0.245 G=0.755
Siberian Global Study-wide 52 T=0.15 G=0.85
The Danish reference pan genome Danish Study-wide 40 T=0.20 G=0.80
Help

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 1 NC_000001.11:g.153347896T>A
GRCh38.p14 chr 1 NC_000001.11:g.153347896T>C
GRCh38.p14 chr 1 NC_000001.11:g.153347896T>G
GRCh37.p13 chr 1 NC_000001.10:g.153320372T>A
GRCh37.p13 chr 1 NC_000001.10:g.153320372T>C
GRCh37.p13 chr 1 NC_000001.10:g.153320372T>G
Gene: PGLYRP4, peptidoglycan recognition protein 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PGLYRP4 transcript NM_020393.4:c.37A>T I [ATC] > F [TTC] Coding Sequence Variant
peptidoglycan recognition protein 4 precursor NP_065126.2:p.Ile13Phe I (Ile) > F (Phe) Missense Variant
PGLYRP4 transcript NM_020393.4:c.37A>G I [ATC] > V [GTC] Coding Sequence Variant
peptidoglycan recognition protein 4 precursor NP_065126.2:p.Ile13Val I (Ile) > V (Val) Missense Variant
PGLYRP4 transcript NM_020393.4:c.37A>C I [ATC] > L [CTC] Coding Sequence Variant
peptidoglycan recognition protein 4 precursor NP_065126.2:p.Ile13Leu I (Ile) > L (Leu) Missense Variant
PGLYRP4 transcript variant X7 XM_011509793.2:c. N/A Genic Upstream Transcript Variant
PGLYRP4 transcript variant X3 XM_011509790.1:c.37A>T I [ATC] > F [TTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X1 XP_011508092.1:p.Ile13Phe I (Ile) > F (Phe) Missense Variant
PGLYRP4 transcript variant X3 XM_011509790.1:c.37A>G I [ATC] > V [GTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X1 XP_011508092.1:p.Ile13Val I (Ile) > V (Val) Missense Variant
PGLYRP4 transcript variant X3 XM_011509790.1:c.37A>C I [ATC] > L [CTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X1 XP_011508092.1:p.Ile13Leu I (Ile) > L (Leu) Missense Variant
PGLYRP4 transcript variant X5 XM_011509792.1:c.37A>T I [ATC] > F [TTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X3 XP_011508094.1:p.Ile13Phe I (Ile) > F (Phe) Missense Variant
PGLYRP4 transcript variant X5 XM_011509792.1:c.37A>G I [ATC] > V [GTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X3 XP_011508094.1:p.Ile13Val I (Ile) > V (Val) Missense Variant
PGLYRP4 transcript variant X5 XM_011509792.1:c.37A>C I [ATC] > L [CTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X3 XP_011508094.1:p.Ile13Leu I (Ile) > L (Leu) Missense Variant
PGLYRP4 transcript variant X1 XM_011509789.3:c.37A>T I [ATC] > F [TTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X1 XP_011508091.1:p.Ile13Phe I (Ile) > F (Phe) Missense Variant
PGLYRP4 transcript variant X1 XM_011509789.3:c.37A>G I [ATC] > V [GTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X1 XP_011508091.1:p.Ile13Val I (Ile) > V (Val) Missense Variant
PGLYRP4 transcript variant X1 XM_011509789.3:c.37A>C I [ATC] > L [CTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X1 XP_011508091.1:p.Ile13Leu I (Ile) > L (Leu) Missense Variant
PGLYRP4 transcript variant X4 XM_011509791.3:c.37A>T I [ATC] > F [TTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X2 XP_011508093.1:p.Ile13Phe I (Ile) > F (Phe) Missense Variant
PGLYRP4 transcript variant X4 XM_011509791.3:c.37A>G I [ATC] > V [GTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X2 XP_011508093.1:p.Ile13Val I (Ile) > V (Val) Missense Variant
PGLYRP4 transcript variant X4 XM_011509791.3:c.37A>C I [ATC] > L [CTC] Coding Sequence Variant
peptidoglycan recognition protein 4 isoform X2 XP_011508093.1:p.Ile13Leu I (Ile) > L (Leu) Missense Variant
PGLYRP4 transcript variant X2 XR_007062001.1:n.397A>T N/A Non Coding Transcript Variant
PGLYRP4 transcript variant X2 XR_007062001.1:n.397A>G N/A Non Coding Transcript Variant
PGLYRP4 transcript variant X2 XR_007062001.1:n.397A>C N/A Non Coding Transcript Variant
PGLYRP4 transcript variant X6 XR_921897.3:n.397A>T N/A Non Coding Transcript Variant
PGLYRP4 transcript variant X6 XR_921897.3:n.397A>G N/A Non Coding Transcript Variant
PGLYRP4 transcript variant X6 XR_921897.3:n.397A>C N/A Non Coding Transcript Variant
Help

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
Help

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 1 NC_000001.11:g.153347896= NC_000001.11:g.153347896T>A NC_000001.11:g.153347896T>C NC_000001.11:g.153347896T>G
GRCh37.p13 chr 1 NC_000001.10:g.153320372= NC_000001.10:g.153320372T>A NC_000001.10:g.153320372T>C NC_000001.10:g.153320372T>G
PGLYRP4 transcript NM_020393.4:c.37= NM_020393.4:c.37A>T NM_020393.4:c.37A>G NM_020393.4:c.37A>C
PGLYRP4 transcript NM_020393.3:c.37= NM_020393.3:c.37A>T NM_020393.3:c.37A>G NM_020393.3:c.37A>C
PGLYRP4 transcript NM_020393.2:c.37= NM_020393.2:c.37A>T NM_020393.2:c.37A>G NM_020393.2:c.37A>C
PGLYRP4 transcript variant X1 XM_011509789.3:c.37= XM_011509789.3:c.37A>T XM_011509789.3:c.37A>G XM_011509789.3:c.37A>C
PGLYRP4 transcript variant X1 XM_011509789.2:c.37= XM_011509789.2:c.37A>T XM_011509789.2:c.37A>G XM_011509789.2:c.37A>C
PGLYRP4 transcript variant X2 XM_011509789.1:c.37= XM_011509789.1:c.37A>T XM_011509789.1:c.37A>G XM_011509789.1:c.37A>C
PGLYRP4 transcript variant X4 XM_011509791.3:c.37= XM_011509791.3:c.37A>T XM_011509791.3:c.37A>G XM_011509791.3:c.37A>C
PGLYRP4 transcript variant X3 XM_011509791.2:c.37= XM_011509791.2:c.37A>T XM_011509791.2:c.37A>G XM_011509791.2:c.37A>C
PGLYRP4 transcript variant X4 XM_011509791.1:c.37= XM_011509791.1:c.37A>T XM_011509791.1:c.37A>G XM_011509791.1:c.37A>C
PGLYRP4 transcript variant X6 XR_921897.3:n.397= XR_921897.3:n.397A>T XR_921897.3:n.397A>G XR_921897.3:n.397A>C
PGLYRP4 transcript variant X5 XR_921897.2:n.397= XR_921897.2:n.397A>T XR_921897.2:n.397A>G XR_921897.2:n.397A>C
PGLYRP4 transcript variant X6 XR_921897.1:n.397= XR_921897.1:n.397A>T XR_921897.1:n.397A>G XR_921897.1:n.397A>C
PGLYRP4 transcript variant X2 XR_007062001.1:n.397= XR_007062001.1:n.397A>T XR_007062001.1:n.397A>G XR_007062001.1:n.397A>C
PGLYRP4 transcript variant X5 XM_011509792.1:c.37= XM_011509792.1:c.37A>T XM_011509792.1:c.37A>G XM_011509792.1:c.37A>C
PGLYRP4 transcript variant X3 XM_011509790.1:c.37= XM_011509790.1:c.37A>T XM_011509790.1:c.37A>G XM_011509790.1:c.37A>C
peptidoglycan recognition protein 4 precursor NP_065126.2:p.Ile13= NP_065126.2:p.Ile13Phe NP_065126.2:p.Ile13Val NP_065126.2:p.Ile13Leu
peptidoglycan recognition protein 4 isoform X1 XP_011508091.1:p.Ile13= XP_011508091.1:p.Ile13Phe XP_011508091.1:p.Ile13Val XP_011508091.1:p.Ile13Leu
peptidoglycan recognition protein 4 isoform X2 XP_011508093.1:p.Ile13= XP_011508093.1:p.Ile13Phe XP_011508093.1:p.Ile13Val XP_011508093.1:p.Ile13Leu
peptidoglycan recognition protein 4 isoform X3 XP_011508094.1:p.Ile13= XP_011508094.1:p.Ile13Phe XP_011508094.1:p.Ile13Val XP_011508094.1:p.Ile13Leu
peptidoglycan recognition protein 4 isoform X1 XP_011508092.1:p.Ile13= XP_011508092.1:p.Ile13Phe XP_011508092.1:p.Ile13Val XP_011508092.1:p.Ile13Leu
Help

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#.

152 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4231847 Nov 05, 2001 (101)
2 BCM_SSAHASNP ss9866795 Jul 11, 2003 (116)
3 SC_SNP ss13034058 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss16451651 Feb 27, 2004 (120)
5 ABI ss44053750 Mar 13, 2006 (126)
6 APPLERA_GI ss48413514 Mar 13, 2006 (126)
7 ILLUMINA ss65731326 Oct 16, 2006 (127)
8 PERLEGEN ss68780395 May 18, 2007 (127)
9 ILLUMINA ss74893240 Dec 07, 2007 (129)
10 SI_EXO ss76889839 Dec 07, 2007 (129)
11 HGSV ss77309937 Dec 07, 2007 (129)
12 BCMHGSC_JDW ss87822345 Mar 23, 2008 (129)
13 BGI ss102785412 Dec 01, 2009 (131)
14 1000GENOMES ss108594160 Jan 23, 2009 (130)
15 1000GENOMES ss111144522 Jan 25, 2009 (130)
16 ILLUMINA-UK ss119029555 Feb 15, 2009 (130)
17 GMI ss155745451 Dec 01, 2009 (131)
18 SEATTLESEQ ss159698961 Dec 01, 2009 (131)
19 ILLUMINA ss160606110 Dec 01, 2009 (131)
20 ENSEMBL ss161175324 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss164104983 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss165210904 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss167125457 Jul 04, 2010 (132)
24 ILLUMINA ss173550717 Jul 04, 2010 (132)
25 BUSHMAN ss199076881 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss205342037 Jul 04, 2010 (132)
27 1000GENOMES ss218648224 Jul 14, 2010 (132)
28 1000GENOMES ss230729573 Jul 14, 2010 (132)
29 1000GENOMES ss238378044 Jul 15, 2010 (132)
30 BL ss253504094 May 09, 2011 (134)
31 GMI ss276048749 May 04, 2012 (137)
32 GMI ss284151467 Apr 25, 2013 (138)
33 PJP ss290635846 May 09, 2011 (134)
34 NHLBI-ESP ss341995346 May 09, 2011 (134)
35 ILLUMINA ss480739315 May 04, 2012 (137)
36 ILLUMINA ss480755172 May 04, 2012 (137)
37 ILLUMINA ss481638850 Sep 08, 2015 (146)
38 ILLUMINA ss485164404 May 04, 2012 (137)
39 1000GENOMES ss489765607 May 04, 2012 (137)
40 EXOME_CHIP ss491301971 May 04, 2012 (137)
41 CLINSEQ_SNP ss491604571 May 04, 2012 (137)
42 ILLUMINA ss537156758 Sep 08, 2015 (146)
43 TISHKOFF ss554686858 Apr 25, 2013 (138)
44 SSMP ss648409262 Apr 25, 2013 (138)
45 ILLUMINA ss780674343 Aug 21, 2014 (142)
46 ILLUMINA ss783028436 Aug 21, 2014 (142)
47 ILLUMINA ss783364281 Aug 21, 2014 (142)
48 ILLUMINA ss783988209 Aug 21, 2014 (142)
49 ILLUMINA ss832286036 Apr 01, 2015 (144)
50 ILLUMINA ss836170599 Aug 21, 2014 (142)
51 JMKIDD_LAB ss974437260 Aug 21, 2014 (142)
52 EVA-GONL ss975675166 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1067426203 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1068264041 Aug 21, 2014 (142)
55 1000GENOMES ss1292892796 Aug 21, 2014 (142)
56 DDI ss1425977109 Apr 01, 2015 (144)
57 EVA_GENOME_DK ss1574387742 Apr 01, 2015 (144)
58 EVA_FINRISK ss1584011198 Apr 01, 2015 (144)
59 EVA_DECODE ss1585055982 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1601197150 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1644191183 Apr 01, 2015 (144)
62 EVA_EXAC ss1685791212 Apr 01, 2015 (144)
63 EVA_EXAC ss1685791213 Apr 01, 2015 (144)
64 EVA_MGP ss1710924662 Apr 01, 2015 (144)
65 EVA_SVP ss1712370396 Apr 01, 2015 (144)
66 ILLUMINA ss1751871536 Sep 08, 2015 (146)
67 ILLUMINA ss1751871537 Sep 08, 2015 (146)
68 HAMMER_LAB ss1795082020 Sep 08, 2015 (146)
69 ILLUMINA ss1917735021 Feb 12, 2016 (147)
70 WEILL_CORNELL_DGM ss1918908616 Feb 12, 2016 (147)
71 ILLUMINA ss1946009115 Feb 12, 2016 (147)
72 ILLUMINA ss1958316413 Feb 12, 2016 (147)
73 GENOMED ss1966866282 Jul 19, 2016 (147)
74 JJLAB ss2019970303 Sep 14, 2016 (149)
75 USC_VALOUEV ss2147994179 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2166474228 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2624493294 Nov 08, 2017 (151)
78 ILLUMINA ss2632575095 Nov 08, 2017 (151)
79 GRF ss2697966740 Nov 08, 2017 (151)
80 GNOMAD ss2731871064 Nov 08, 2017 (151)
81 GNOMAD ss2746444863 Nov 08, 2017 (151)
82 GNOMAD ss2761216027 Nov 08, 2017 (151)
83 AFFY ss2984878520 Nov 08, 2017 (151)
84 SWEGEN ss2987738771 Nov 08, 2017 (151)
85 ILLUMINA ss3021135150 Nov 08, 2017 (151)
86 CSHL ss3343707388 Nov 08, 2017 (151)
87 ILLUMINA ss3630608049 Oct 11, 2018 (152)
88 ILLUMINA ss3632909709 Oct 11, 2018 (152)
89 ILLUMINA ss3633605011 Oct 11, 2018 (152)
90 ILLUMINA ss3634349279 Oct 11, 2018 (152)
91 ILLUMINA ss3634349280 Oct 11, 2018 (152)
92 ILLUMINA ss3636028895 Oct 11, 2018 (152)
93 ILLUMINA ss3637048958 Oct 11, 2018 (152)
94 ILLUMINA ss3637786648 Oct 11, 2018 (152)
95 ILLUMINA ss3640056636 Oct 11, 2018 (152)
96 ILLUMINA ss3640056637 Oct 11, 2018 (152)
97 ILLUMINA ss3642796002 Oct 11, 2018 (152)
98 ILLUMINA ss3644505070 Oct 11, 2018 (152)
99 BIOINF_KMB_FNS_UNIBA ss3645072284 Oct 11, 2018 (152)
100 OMUKHERJEE_ADBS ss3646245803 Oct 11, 2018 (152)
101 URBANLAB ss3646789827 Oct 11, 2018 (152)
102 ILLUMINA ss3651469300 Oct 11, 2018 (152)
103 ILLUMINA ss3653647962 Oct 11, 2018 (152)
104 EGCUT_WGS ss3655679381 Jul 12, 2019 (153)
105 EVA_DECODE ss3687765467 Jul 12, 2019 (153)
106 ACPOP ss3727479361 Jul 12, 2019 (153)
107 ILLUMINA ss3744352247 Jul 12, 2019 (153)
108 ILLUMINA ss3744650189 Jul 12, 2019 (153)
109 ILLUMINA ss3744650190 Jul 12, 2019 (153)
110 EVA ss3746798753 Jul 12, 2019 (153)
111 ILLUMINA ss3772151333 Jul 12, 2019 (153)
112 ILLUMINA ss3772151334 Jul 12, 2019 (153)
113 PACBIO ss3783564032 Jul 12, 2019 (153)
114 PACBIO ss3789196150 Jul 12, 2019 (153)
115 PACBIO ss3794068160 Jul 12, 2019 (153)
116 KHV_HUMAN_GENOMES ss3799801558 Jul 12, 2019 (153)
117 EVA ss3823660097 Apr 25, 2020 (154)
118 EVA ss3825575276 Apr 25, 2020 (154)
119 EVA ss3826420421 Apr 25, 2020 (154)
120 EVA ss3836604881 Apr 25, 2020 (154)
121 EVA ss3842014065 Apr 25, 2020 (154)
122 SGDP_PRJ ss3849989981 Apr 25, 2020 (154)
123 KRGDB ss3895191395 Apr 25, 2020 (154)
124 KOGIC ss3945634158 Apr 25, 2020 (154)
125 FSA-LAB ss3983946443 Apr 25, 2021 (155)
126 FSA-LAB ss3983946444 Apr 25, 2021 (155)
127 EVA ss3986013078 Apr 25, 2021 (155)
128 EVA ss3986137958 Apr 25, 2021 (155)
129 TOPMED ss4467999823 Apr 25, 2021 (155)
130 TOMMO_GENOMICS ss5146440670 Apr 25, 2021 (155)
131 EVA ss5236873469 Apr 25, 2021 (155)
132 EVA ss5237163843 Apr 25, 2021 (155)
133 1000G_HIGH_COVERAGE ss5244263538 Oct 12, 2022 (156)
134 EVA ss5321997210 Oct 12, 2022 (156)
135 HUGCELL_USP ss5444860046 Oct 12, 2022 (156)
136 EVA ss5506027852 Oct 12, 2022 (156)
137 1000G_HIGH_COVERAGE ss5517577683 Oct 12, 2022 (156)
138 EVA ss5623916444 Oct 12, 2022 (156)
139 EVA ss5623997561 Oct 12, 2022 (156)
140 SANFORD_IMAGENETICS ss5626576040 Oct 12, 2022 (156)
141 TOMMO_GENOMICS ss5673621664 Oct 12, 2022 (156)
142 EVA ss5799498596 Oct 12, 2022 (156)
143 EVA ss5800085576 Oct 12, 2022 (156)
144 YY_MCH ss5801253728 Oct 12, 2022 (156)
145 EVA ss5832654707 Oct 12, 2022 (156)
146 EVA ss5848272088 Oct 12, 2022 (156)
147 EVA ss5849106139 Oct 12, 2022 (156)
148 EVA ss5910213562 Oct 12, 2022 (156)
149 EVA ss5936512175 Oct 12, 2022 (156)
150 EVA ss5938369512 Oct 12, 2022 (156)
151 EVA ss5979989342 Oct 12, 2022 (156)
152 EVA ss5981197216 Oct 12, 2022 (156)
153 1000Genomes NC_000001.10 - 153320372 Oct 11, 2018 (152)
154 1000Genomes_30x NC_000001.11 - 153347896 Oct 12, 2022 (156)
155 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 153320372 Oct 11, 2018 (152)
156 Genetic variation in the Estonian population NC_000001.10 - 153320372 Oct 11, 2018 (152)
157 ExAC

Submission ignored due to conflicting rows:
Row 5008738 (NC_000001.10:153320371:T:T 21234/120546, NC_000001.10:153320371:T:G 99312/120546)
Row 5008739 (NC_000001.10:153320371:T:T 120545/120546, NC_000001.10:153320371:T:A 1/120546)

- Oct 11, 2018 (152)
158 ExAC

Submission ignored due to conflicting rows:
Row 5008738 (NC_000001.10:153320371:T:T 21234/120546, NC_000001.10:153320371:T:G 99312/120546)
Row 5008739 (NC_000001.10:153320371:T:T 120545/120546, NC_000001.10:153320371:T:A 1/120546)

- Oct 11, 2018 (152)
159 FINRISK NC_000001.10 - 153320372 Apr 25, 2020 (154)
160 The Danish reference pan genome NC_000001.10 - 153320372 Apr 25, 2020 (154)
161 gnomAD - Genomes NC_000001.11 - 153347896 Apr 25, 2021 (155)
162 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 892388 (NC_000001.10:153320371:T:T 250353/250354, NC_000001.10:153320371:T:A 1/250354)
Row 892389 (NC_000001.10:153320371:T:T 44355/250354, NC_000001.10:153320371:T:G 205999/250354)

- Jul 12, 2019 (153)
163 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 892388 (NC_000001.10:153320371:T:T 250353/250354, NC_000001.10:153320371:T:A 1/250354)
Row 892389 (NC_000001.10:153320371:T:T 44355/250354, NC_000001.10:153320371:T:G 205999/250354)

- Jul 12, 2019 (153)
164 GO Exome Sequencing Project NC_000001.10 - 153320372 Oct 11, 2018 (152)
165 Genome of the Netherlands Release 5 NC_000001.10 - 153320372 Apr 25, 2020 (154)
166 HapMap NC_000001.11 - 153347896 Apr 25, 2020 (154)
167 KOREAN population from KRGDB NC_000001.10 - 153320372 Apr 25, 2020 (154)
168 Korean Genome Project NC_000001.11 - 153347896 Apr 25, 2020 (154)
169 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 153320372 Apr 25, 2020 (154)
170 Northern Sweden NC_000001.10 - 153320372 Jul 12, 2019 (153)
171 Qatari NC_000001.10 - 153320372 Apr 25, 2020 (154)
172 SGDP_PRJ NC_000001.10 - 153320372 Apr 25, 2020 (154)
173 Siberian NC_000001.10 - 153320372 Apr 25, 2020 (154)
174 8.3KJPN NC_000001.10 - 153320372 Apr 25, 2021 (155)
175 14KJPN NC_000001.11 - 153347896 Oct 12, 2022 (156)
176 TopMed NC_000001.11 - 153347896 Apr 25, 2021 (155)
177 UK 10K study - Twins NC_000001.10 - 153320372 Oct 11, 2018 (152)
178 A Vietnamese Genetic Variation Database NC_000001.10 - 153320372 Jul 12, 2019 (153)
179 ALFA NC_000001.11 - 153347896 Apr 25, 2021 (155)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2368789, ss1685791213, ss2731871064, ss3895191395 NC_000001.10:153320371:T:A NC_000001.11:153347895:T:A (self)
6731302895 NC_000001.11:153347895:T:C NC_000001.11:153347895:T:C (self)
ss77309937 NC_000001.8:150133444:T:G NC_000001.11:153347895:T:G (self)
ss87822345, ss108594160, ss111144522, ss119029555, ss160606110, ss164104983, ss165210904, ss167125457, ss199076881, ss205342037, ss253504094, ss276048749, ss284151467, ss290635846, ss480739315, ss491604571, ss1585055982, ss1712370396, ss3642796002 NC_000001.9:151586995:T:G NC_000001.11:153347895:T:G (self)
3683614, 2002399, 1417629, 7659, 1706081, 118700, 871253, 2368789, 41414, 764226, 950546, 2006961, 510533, 4409977, 2002399, 431262, ss218648224, ss230729573, ss238378044, ss341995346, ss480755172, ss481638850, ss485164404, ss489765607, ss491301971, ss537156758, ss554686858, ss648409262, ss780674343, ss783028436, ss783364281, ss783988209, ss832286036, ss836170599, ss974437260, ss975675166, ss1067426203, ss1068264041, ss1292892796, ss1425977109, ss1574387742, ss1584011198, ss1601197150, ss1644191183, ss1685791212, ss1710924662, ss1751871536, ss1751871537, ss1795082020, ss1917735021, ss1918908616, ss1946009115, ss1958316413, ss1966866282, ss2019970303, ss2147994179, ss2624493294, ss2632575095, ss2697966740, ss2731871064, ss2746444863, ss2761216027, ss2984878520, ss2987738771, ss3021135150, ss3343707388, ss3630608049, ss3632909709, ss3633605011, ss3634349279, ss3634349280, ss3636028895, ss3637048958, ss3637786648, ss3640056636, ss3640056637, ss3644505070, ss3646245803, ss3651469300, ss3653647962, ss3655679381, ss3727479361, ss3744352247, ss3744650189, ss3744650190, ss3746798753, ss3772151333, ss3772151334, ss3783564032, ss3789196150, ss3794068160, ss3823660097, ss3825575276, ss3826420421, ss3836604881, ss3849989981, ss3895191395, ss3983946443, ss3983946444, ss3986013078, ss3986137958, ss5146440670, ss5321997210, ss5506027852, ss5623916444, ss5623997561, ss5626576040, ss5799498596, ss5800085576, ss5832654707, ss5848272088, ss5936512175, ss5938369512, ss5979989342, ss5981197216 NC_000001.10:153320371:T:G NC_000001.11:153347895:T:G (self)
5103618, 26793359, 175323, 2012159, 7458768, 31606158, 6731302895, ss2166474228, ss3645072284, ss3646789827, ss3687765467, ss3799801558, ss3842014065, ss3945634158, ss4467999823, ss5236873469, ss5237163843, ss5244263538, ss5444860046, ss5517577683, ss5673621664, ss5801253728, ss5849106139, ss5910213562 NC_000001.11:153347895:T:G NC_000001.11:153347895:T:G (self)
ss76889839 NT_004487.18:3810726:T:G NC_000001.11:153347895:T:G (self)
ss4231847, ss44053750, ss48413514, ss65731326, ss68780395, ss74893240, ss102785412, ss155745451, ss159698961, ss161175324, ss173550717 NT_004487.19:4809013:T:G NC_000001.11:153347895:T:G (self)
ss9866795, ss13034058 NT_032962.4:3742367:T:G NC_000001.11:153347895:T:G (self)
ss16451651 NT_032962.5:3810726:T:G NC_000001.11:153347895:T:G (self)
Help

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

2 citations for rs3006458
PMID Title Author Year Journal
24838182 Peptidoglycan recognition protein genes and risk of Parkinson's disease. Goldman SM et al. 2014 Movement disorders
28143570 Host genetic variation in mucosal immunity pathways influences the upper airway microbiome. Igartua C et al. 2017 Microbiome
Help

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
Top▲ Help

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.

Software version is: 2.0.1.post774+babeb33