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dbSNP Short Genetic Variations

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.

rs6810428

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:765921 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.352748 (93369/264690, TOPMED)
G=0.429662 (86607/201570, ALFA)
G=0.351243 (49219/140128, GnomAD) (+ 19 more)
G=0.39097 (11048/28258, 14KJPN)
G=0.39254 (6579/16760, 8.3KJPN)
G=0.3512 (2249/6404, 1000G_30x)
G=0.3588 (1797/5008, 1000G)
G=0.3783 (1695/4480, Estonian)
G=0.4354 (1678/3854, ALSPAC)
G=0.4310 (1598/3708, TWINSUK)
G=0.4000 (1172/2930, KOREAN)
G=0.4015 (836/2082, HGDP_Stanford)
G=0.3305 (624/1888, HapMap)
G=0.407 (406/998, GoNL)
G=0.383 (230/600, NorthernSweden)
G=0.303 (162/534, MGP)
A=0.317 (104/328, SGDP_PRJ)
G=0.481 (104/216, Qatari)
G=0.403 (87/216, Vietnamese)
G=0.40 (32/80, Ancient Sardinia)
G=0.47 (19/40, GENOME_DK)
A=0.31 (11/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PCGF3-AS1 : Intron Variant
PCGF3 : Intron Variant
LOC124900163 : Intron Variant
Publications
0 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 201570 A=0.570338 G=0.429662, T=0.000000
European Sub 174496 A=0.559228 G=0.440772, T=0.000000
African Sub 6952 A=0.8258 G=0.1742, T=0.0000
African Others Sub 262 A=0.878 G=0.122, T=0.000
African American Sub 6690 A=0.8238 G=0.1762, T=0.0000
Asian Sub 702 A=0.610 G=0.390, T=0.000
East Asian Sub 556 A=0.601 G=0.399, T=0.000
Other Asian Sub 146 A=0.644 G=0.356, T=0.000
Latin American 1 Sub 844 A=0.630 G=0.370, T=0.000
Latin American 2 Sub 6890 A=0.6061 G=0.3939, T=0.0000
South Asian Sub 5042 A=0.5236 G=0.4764, T=0.0000
Other Sub 6644 A=0.5814 G=0.4186, T=0.0000


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 A=0.647252 G=0.352748
Allele Frequency Aggregator Total Global 201570 A=0.570338 G=0.429662, T=0.000000
Allele Frequency Aggregator European Sub 174496 A=0.559228 G=0.440772, T=0.000000
Allele Frequency Aggregator African Sub 6952 A=0.8258 G=0.1742, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6890 A=0.6061 G=0.3939, T=0.0000
Allele Frequency Aggregator Other Sub 6644 A=0.5814 G=0.4186, T=0.0000
Allele Frequency Aggregator South Asian Sub 5042 A=0.5236 G=0.4764, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 844 A=0.630 G=0.370, T=0.000
Allele Frequency Aggregator Asian Sub 702 A=0.610 G=0.390, T=0.000
gnomAD - Genomes Global Study-wide 140128 A=0.648757 G=0.351243
gnomAD - Genomes European Sub 75860 A=0.57304 G=0.42696
gnomAD - Genomes African Sub 42004 A=0.81337 G=0.18663
gnomAD - Genomes American Sub 13662 A=0.62773 G=0.37227
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.4307 G=0.5693
gnomAD - Genomes East Asian Sub 3128 A=0.6167 G=0.3833
gnomAD - Genomes Other Sub 2154 A=0.6212 G=0.3788
14KJPN JAPANESE Study-wide 28258 A=0.60903 G=0.39097
8.3KJPN JAPANESE Study-wide 16760 A=0.60746 G=0.39254
1000Genomes_30x Global Study-wide 6404 A=0.6487 C=0.0002, G=0.3512
1000Genomes_30x African Sub 1786 A=0.8415 C=0.0000, G=0.1585
1000Genomes_30x Europe Sub 1266 A=0.5442 C=0.0000, G=0.4558
1000Genomes_30x South Asian Sub 1202 A=0.5283 C=0.0008, G=0.4709
1000Genomes_30x East Asian Sub 1170 A=0.6120 C=0.0000, G=0.3880
1000Genomes_30x American Sub 980 A=0.623 C=0.000, G=0.377
1000Genomes Global Study-wide 5008 A=0.6412 G=0.3588
1000Genomes African Sub 1322 A=0.8396 G=0.1604
1000Genomes East Asian Sub 1008 A=0.6032 G=0.3968
1000Genomes Europe Sub 1006 A=0.5507 G=0.4493
1000Genomes South Asian Sub 978 A=0.525 G=0.475
1000Genomes American Sub 694 A=0.614 G=0.386
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6217 G=0.3783
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5646 G=0.4354
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5690 G=0.4310
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6000 G=0.4000
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.5985 G=0.4015
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.623 G=0.377
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.543 G=0.457
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.469 G=0.531
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.522 G=0.478
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.843 G=0.157
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.759 G=0.241
HGDP-CEPH-db Supplement 1 Oceania Sub 70 A=0.41 G=0.59
HapMap Global Study-wide 1888 A=0.6695 G=0.3305
HapMap American Sub 768 A=0.613 G=0.387
HapMap African Sub 690 A=0.809 G=0.191
HapMap Asian Sub 254 A=0.579 G=0.421
HapMap Europe Sub 176 A=0.500 G=0.500
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.593 G=0.407
Northern Sweden ACPOP Study-wide 600 A=0.617 G=0.383
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.697 G=0.303
SGDP_PRJ Global Study-wide 328 A=0.317 G=0.683
Qatari Global Study-wide 216 A=0.519 G=0.481
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.597 G=0.403
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 A=0.60 G=0.40
The Danish reference pan genome Danish Study-wide 40 A=0.53 G=0.47
Siberian Global Study-wide 36 A=0.31 G=0.69
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 4 NC_000004.12:g.765921A>C
GRCh38.p14 chr 4 NC_000004.12:g.765921A>G
GRCh38.p14 chr 4 NC_000004.12:g.765921A>T
GRCh37.p13 chr 4 NC_000004.11:g.759709A>C
GRCh37.p13 chr 4 NC_000004.11:g.759709A>G
GRCh37.p13 chr 4 NC_000004.11:g.759709A>T
Gene: PCGF3, polycomb group ring finger 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PCGF3 transcript variant 1 NM_001317836.3:c.682-111A…

NM_001317836.3:c.682-111A>C

N/A Intron Variant
PCGF3 transcript variant 3 NM_001395245.1:c.682-111A…

NM_001395245.1:c.682-111A>C

N/A Intron Variant
PCGF3 transcript variant 4 NM_001395246.1:c.682-111A…

NM_001395246.1:c.682-111A>C

N/A Intron Variant
PCGF3 transcript variant 5 NM_001395247.1:c.682-111A…

NM_001395247.1:c.682-111A>C

N/A Intron Variant
PCGF3 transcript variant 6 NM_001395248.1:c.682-111A…

NM_001395248.1:c.682-111A>C

N/A Intron Variant
PCGF3 transcript variant 7 NM_001395249.1:c.682-111A…

NM_001395249.1:c.682-111A>C

N/A Intron Variant
PCGF3 transcript variant 8 NM_001395250.1:c.580-111A…

NM_001395250.1:c.580-111A>C

N/A Intron Variant
PCGF3 transcript variant 9 NM_001395251.1:c.580-111A…

NM_001395251.1:c.580-111A>C

N/A Intron Variant
PCGF3 transcript variant 2 NM_006315.7:c.682-111A>C N/A Intron Variant
PCGF3 transcript variant X1 XM_047449500.1:c.580-111A…

XM_047449500.1:c.580-111A>C

N/A Intron Variant
Gene: PCGF3-AS1, PCGF3 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PCGF3-AS1 transcript variant 3 NR_171661.1:n. N/A Intron Variant
PCGF3-AS1 transcript variant 1 NR_036511.1:n. N/A Genic Downstream Transcript Variant
PCGF3-AS1 transcript variant 2 NR_036512.1:n. N/A Genic Downstream Transcript Variant
Gene: LOC124900163, uncharacterized LOC124900163 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124900163 transcript variant X1 XM_047416472.1:c.-2792-30…

XM_047416472.1:c.-2792-3082T>G

N/A Intron Variant
LOC124900163 transcript variant X3 XM_047416474.1:c.-2693-31…

XM_047416474.1:c.-2693-3181T>G

N/A Intron Variant
LOC124900163 transcript variant X2 XM_047416473.1:c. N/A Genic Upstream 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 A= C G T
GRCh38.p14 chr 4 NC_000004.12:g.765921= NC_000004.12:g.765921A>C NC_000004.12:g.765921A>G NC_000004.12:g.765921A>T
GRCh37.p13 chr 4 NC_000004.11:g.759709= NC_000004.11:g.759709A>C NC_000004.11:g.759709A>G NC_000004.11:g.759709A>T
PCGF3 transcript variant 1 NM_001317836.3:c.682-111= NM_001317836.3:c.682-111A>C NM_001317836.3:c.682-111A>G NM_001317836.3:c.682-111A>T
PCGF3 transcript variant 3 NM_001395245.1:c.682-111= NM_001395245.1:c.682-111A>C NM_001395245.1:c.682-111A>G NM_001395245.1:c.682-111A>T
PCGF3 transcript variant 4 NM_001395246.1:c.682-111= NM_001395246.1:c.682-111A>C NM_001395246.1:c.682-111A>G NM_001395246.1:c.682-111A>T
PCGF3 transcript variant 5 NM_001395247.1:c.682-111= NM_001395247.1:c.682-111A>C NM_001395247.1:c.682-111A>G NM_001395247.1:c.682-111A>T
PCGF3 transcript variant 6 NM_001395248.1:c.682-111= NM_001395248.1:c.682-111A>C NM_001395248.1:c.682-111A>G NM_001395248.1:c.682-111A>T
PCGF3 transcript variant 7 NM_001395249.1:c.682-111= NM_001395249.1:c.682-111A>C NM_001395249.1:c.682-111A>G NM_001395249.1:c.682-111A>T
PCGF3 transcript variant 8 NM_001395250.1:c.580-111= NM_001395250.1:c.580-111A>C NM_001395250.1:c.580-111A>G NM_001395250.1:c.580-111A>T
PCGF3 transcript variant 9 NM_001395251.1:c.580-111= NM_001395251.1:c.580-111A>C NM_001395251.1:c.580-111A>G NM_001395251.1:c.580-111A>T
PCGF3 transcript NM_006315.4:c.682-111= NM_006315.4:c.682-111A>C NM_006315.4:c.682-111A>G NM_006315.4:c.682-111A>T
PCGF3 transcript variant 2 NM_006315.7:c.682-111= NM_006315.7:c.682-111A>C NM_006315.7:c.682-111A>G NM_006315.7:c.682-111A>T
PCGF3 transcript variant X1 XM_005272250.1:c.682-111= XM_005272250.1:c.682-111A>C XM_005272250.1:c.682-111A>G XM_005272250.1:c.682-111A>T
PCGF3 transcript variant X2 XM_005272251.1:c.682-114= XM_005272251.1:c.682-114A>C XM_005272251.1:c.682-114A>G XM_005272251.1:c.682-114A>T
PCGF3 transcript variant X3 XM_005272253.1:c.580-111= XM_005272253.1:c.580-111A>C XM_005272253.1:c.580-111A>G XM_005272253.1:c.580-111A>T
PCGF3 transcript variant X4 XM_005272254.1:c.580-111= XM_005272254.1:c.580-111A>C XM_005272254.1:c.580-111A>G XM_005272254.1:c.580-111A>T
PCGF3 transcript variant X6 XM_005272255.1:c.580-114= XM_005272255.1:c.580-114A>C XM_005272255.1:c.580-114A>G XM_005272255.1:c.580-114A>T
PCGF3 transcript variant X7 XM_005272256.1:c.580-114= XM_005272256.1:c.580-114A>C XM_005272256.1:c.580-114A>G XM_005272256.1:c.580-114A>T
LOC124900163 transcript variant X1 XM_047416472.1:c.-2792-3082= XM_047416472.1:c.-2792-3082T>G XM_047416472.1:c.-2792-3082T>C XM_047416472.1:c.-2792-3082T>A
LOC124900163 transcript variant X3 XM_047416474.1:c.-2693-3181= XM_047416474.1:c.-2693-3181T>G XM_047416474.1:c.-2693-3181T>C XM_047416474.1:c.-2693-3181T>A
PCGF3 transcript variant X1 XM_047449500.1:c.580-111= XM_047449500.1:c.580-111A>C XM_047449500.1:c.580-111A>G XM_047449500.1:c.580-111A>T
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#.

116 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10100762 Jul 11, 2003 (116)
2 PERLEGEN ss24396004 Sep 20, 2004 (123)
3 ILLUMINA ss67502807 Dec 03, 2006 (127)
4 ILLUMINA ss67864585 Dec 03, 2006 (127)
5 ILLUMINA ss68260538 Dec 12, 2006 (127)
6 ILLUMINA ss70888715 May 25, 2008 (130)
7 ILLUMINA ss71481097 May 16, 2007 (127)
8 ILLUMINA ss75560587 Dec 07, 2007 (129)
9 KRIBB_YJKIM ss84553244 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss92436754 Mar 24, 2008 (129)
11 BGI ss104031608 Dec 01, 2009 (131)
12 1000GENOMES ss111647461 Jan 25, 2009 (130)
13 1000GENOMES ss112841806 Jan 25, 2009 (130)
14 ENSEMBL ss139391094 Dec 01, 2009 (131)
15 ILLUMINA ss154384811 Dec 01, 2009 (131)
16 ILLUMINA ss159560569 Dec 01, 2009 (131)
17 ILLUMINA ss160812985 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss162988328 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss165986782 Jul 04, 2010 (132)
20 ILLUMINA ss174124618 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss206591096 Jul 04, 2010 (132)
22 1000GENOMES ss220689703 Jul 14, 2010 (132)
23 1000GENOMES ss232222346 Jul 14, 2010 (132)
24 1000GENOMES ss239551777 Jul 15, 2010 (132)
25 GMI ss277536555 May 04, 2012 (137)
26 GMI ss284828326 Apr 25, 2013 (138)
27 PJP ss293052615 May 09, 2011 (134)
28 ILLUMINA ss481364563 May 04, 2012 (137)
29 ILLUMINA ss481390492 May 04, 2012 (137)
30 ILLUMINA ss482368765 Sep 08, 2015 (146)
31 ILLUMINA ss485477456 May 04, 2012 (137)
32 ILLUMINA ss537396603 Sep 08, 2015 (146)
33 TISHKOFF ss557249096 Apr 25, 2013 (138)
34 SSMP ss651001521 Apr 25, 2013 (138)
35 ILLUMINA ss778581611 Sep 08, 2015 (146)
36 ILLUMINA ss783184226 Sep 08, 2015 (146)
37 ILLUMINA ss784139492 Sep 08, 2015 (146)
38 ILLUMINA ss832443915 Sep 08, 2015 (146)
39 ILLUMINA ss833071721 Jul 13, 2019 (153)
40 ILLUMINA ss834038732 Sep 08, 2015 (146)
41 EVA-GONL ss979664909 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1071210422 Aug 21, 2014 (142)
43 1000GENOMES ss1308056445 Aug 21, 2014 (142)
44 DDI ss1429737088 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1580377501 Apr 01, 2015 (144)
46 EVA_DECODE ss1589161856 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1609220880 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1652214913 Apr 01, 2015 (144)
49 EVA_MGP ss1711048450 Apr 01, 2015 (144)
50 EVA_SVP ss1712645233 Apr 01, 2015 (144)
51 ILLUMINA ss1752531648 Sep 08, 2015 (146)
52 HAMMER_LAB ss1800779758 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1922894928 Feb 12, 2016 (147)
54 JJLAB ss2022021621 Sep 14, 2016 (149)
55 USC_VALOUEV ss2150126669 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2259757631 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2625511562 Nov 08, 2017 (151)
58 ILLUMINA ss2634070129 Nov 08, 2017 (151)
59 GRF ss2705561231 Nov 08, 2017 (151)
60 GNOMAD ss2804596173 Nov 08, 2017 (151)
61 SWEGEN ss2993979373 Nov 08, 2017 (151)
62 BIOINF_KMB_FNS_UNIBA ss3024780444 Nov 08, 2017 (151)
63 CSHL ss3345494262 Nov 08, 2017 (151)
64 ILLUMINA ss3628882385 Oct 12, 2018 (152)
65 ILLUMINA ss3632009975 Oct 12, 2018 (152)
66 ILLUMINA ss3633323146 Oct 12, 2018 (152)
67 ILLUMINA ss3634041520 Oct 12, 2018 (152)
68 ILLUMINA ss3634936725 Oct 12, 2018 (152)
69 ILLUMINA ss3635724740 Oct 12, 2018 (152)
70 ILLUMINA ss3636635251 Oct 12, 2018 (152)
71 ILLUMINA ss3637477202 Oct 12, 2018 (152)
72 ILLUMINA ss3638467157 Oct 12, 2018 (152)
73 ILLUMINA ss3639236094 Oct 12, 2018 (152)
74 ILLUMINA ss3639917426 Oct 12, 2018 (152)
75 ILLUMINA ss3640644021 Oct 12, 2018 (152)
76 ILLUMINA ss3643420054 Oct 12, 2018 (152)
77 ILLUMINA ss3643963893 Oct 12, 2018 (152)
78 OMUKHERJEE_ADBS ss3646299810 Oct 12, 2018 (152)
79 EGCUT_WGS ss3661918501 Jul 13, 2019 (153)
80 EVA_DECODE ss3711219933 Jul 13, 2019 (153)
81 ACPOP ss3730771204 Jul 13, 2019 (153)
82 ILLUMINA ss3745236973 Jul 13, 2019 (153)
83 EVA ss3761274208 Jul 13, 2019 (153)
84 ILLUMINA ss3772731793 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3804415280 Jul 13, 2019 (153)
86 EVA ss3828322245 Apr 25, 2020 (154)
87 EVA ss3837592290 Apr 25, 2020 (154)
88 EVA ss3843025541 Apr 25, 2020 (154)
89 HGDP ss3847738315 Apr 25, 2020 (154)
90 SGDP_PRJ ss3858004399 Apr 25, 2020 (154)
91 KRGDB ss3904127107 Apr 25, 2020 (154)
92 FSA-LAB ss3984274284 Apr 26, 2021 (155)
93 EVA ss3985047611 Apr 26, 2021 (155)
94 EVA ss3986269060 Apr 26, 2021 (155)
95 EVA ss4017128604 Apr 26, 2021 (155)
96 TOPMED ss4599916791 Apr 26, 2021 (155)
97 TOMMO_GENOMICS ss5163777755 Apr 26, 2021 (155)
98 EVA ss5237180509 Apr 26, 2021 (155)
99 1000G_HIGH_COVERAGE ss5257712946 Oct 17, 2022 (156)
100 EVA ss5314928177 Oct 17, 2022 (156)
101 EVA ss5346319771 Oct 17, 2022 (156)
102 HUGCELL_USP ss5456672678 Oct 17, 2022 (156)
103 EVA ss5507365744 Oct 17, 2022 (156)
104 1000G_HIGH_COVERAGE ss5537999398 Oct 17, 2022 (156)
105 EVA ss5624136097 Oct 17, 2022 (156)
106 SANFORD_IMAGENETICS ss5634157772 Oct 17, 2022 (156)
107 TOMMO_GENOMICS ss5697298463 Oct 17, 2022 (156)
108 EVA ss5799604923 Oct 17, 2022 (156)
109 EVA ss5800112693 Oct 17, 2022 (156)
110 YY_MCH ss5804670197 Oct 17, 2022 (156)
111 EVA ss5843417002 Oct 17, 2022 (156)
112 EVA ss5848601764 Oct 17, 2022 (156)
113 EVA ss5854042958 Oct 17, 2022 (156)
114 EVA ss5861784198 Oct 17, 2022 (156)
115 EVA ss5962533883 Oct 17, 2022 (156)
116 EVA ss5980199570 Oct 17, 2022 (156)
117 1000Genomes NC_000004.11 - 759709 Oct 12, 2018 (152)
118 1000Genomes_30x NC_000004.12 - 765921 Oct 17, 2022 (156)
119 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 759709 Oct 12, 2018 (152)
120 Genetic variation in the Estonian population NC_000004.11 - 759709 Oct 12, 2018 (152)
121 The Danish reference pan genome NC_000004.11 - 759709 Apr 25, 2020 (154)
122 gnomAD - Genomes NC_000004.12 - 765921 Apr 26, 2021 (155)
123 Genome of the Netherlands Release 5 NC_000004.11 - 759709 Apr 25, 2020 (154)
124 HGDP-CEPH-db Supplement 1 NC_000004.10 - 749709 Apr 25, 2020 (154)
125 HapMap NC_000004.12 - 765921 Apr 25, 2020 (154)
126 KOREAN population from KRGDB NC_000004.11 - 759709 Apr 25, 2020 (154)
127 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 759709 Apr 25, 2020 (154)
128 Northern Sweden NC_000004.11 - 759709 Jul 13, 2019 (153)
129 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 759709 Apr 26, 2021 (155)
130 Qatari NC_000004.11 - 759709 Apr 25, 2020 (154)
131 SGDP_PRJ NC_000004.11 - 759709 Apr 25, 2020 (154)
132 Siberian NC_000004.11 - 759709 Apr 25, 2020 (154)
133 8.3KJPN NC_000004.11 - 759709 Apr 26, 2021 (155)
134 14KJPN NC_000004.12 - 765921 Oct 17, 2022 (156)
135 TopMed NC_000004.12 - 765921 Apr 26, 2021 (155)
136 UK 10K study - Twins NC_000004.11 - 759709 Oct 12, 2018 (152)
137 A Vietnamese Genetic Variation Database NC_000004.11 - 759709 Jul 13, 2019 (153)
138 ALFA NC_000004.12 - 765921 Apr 26, 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).

Associated ID History Updated (Build)
rs17778532 Oct 07, 2004 (123)
rs59949343 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
25525333, ss5537999398 NC_000004.12:765920:A:C NC_000004.12:765920:A:C
ss3639236094, ss3639917426, ss3643963893 NC_000004.9:749538:A:G NC_000004.12:765920:A:G (self)
416207, ss92436754, ss111647461, ss112841806, ss162988328, ss165986782, ss206591096, ss277536555, ss284828326, ss293052615, ss481364563, ss1589161856, ss1712645233, ss3643420054, ss3847738315 NC_000004.10:749708:A:G NC_000004.12:765920:A:G (self)
19393381, 10811593, 7656749, 6542440, 4752331, 11304501, 164210, 4056069, 273538, 4936858, 10021379, 2643023, 21747062, 10811593, 2364092, ss220689703, ss232222346, ss239551777, ss481390492, ss482368765, ss485477456, ss537396603, ss557249096, ss651001521, ss778581611, ss783184226, ss784139492, ss832443915, ss833071721, ss834038732, ss979664909, ss1071210422, ss1308056445, ss1429737088, ss1580377501, ss1609220880, ss1652214913, ss1711048450, ss1752531648, ss1800779758, ss1922894928, ss2022021621, ss2150126669, ss2625511562, ss2634070129, ss2705561231, ss2804596173, ss2993979373, ss3345494262, ss3628882385, ss3632009975, ss3633323146, ss3634041520, ss3634936725, ss3635724740, ss3636635251, ss3637477202, ss3638467157, ss3640644021, ss3646299810, ss3661918501, ss3730771204, ss3745236973, ss3761274208, ss3772731793, ss3828322245, ss3837592290, ss3858004399, ss3904127107, ss3984274284, ss3985047611, ss3986269060, ss4017128604, ss5163777755, ss5314928177, ss5346319771, ss5507365744, ss5624136097, ss5634157772, ss5799604923, ss5800112693, ss5843417002, ss5848601764, ss5962533883, ss5980199570 NC_000004.11:759708:A:G NC_000004.12:765920:A:G (self)
25525333, 137680590, 2542346, 31135567, 437294347, 6895434199, ss2259757631, ss3024780444, ss3711219933, ss3804415280, ss3843025541, ss4599916791, ss5237180509, ss5257712946, ss5456672678, ss5537999398, ss5697298463, ss5804670197, ss5854042958, ss5861784198 NC_000004.12:765920:A:G NC_000004.12:765920:A:G (self)
ss10100762 NT_037622.3:749538:A:G NC_000004.12:765920:A:G (self)
ss24396004, ss67502807, ss67864585, ss68260538, ss70888715, ss71481097, ss75560587, ss84553244, ss104031608, ss139391094, ss154384811, ss159560569, ss160812985, ss174124618 NT_037622.5:749708:A:G NC_000004.12:765920:A:G (self)
6895434199 NC_000004.12:765920:A:T NC_000004.12:765920:A:T (self)
Help

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

No publications for rs6810428

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.post761+d5e8e07