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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.

rs6921583

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:3442666 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.440583 (133198/302322, ALFA)
T=0.466293 (123423/264690, TOPMED)
T=0.468795 (65591/139914, GnomAD) (+ 21 more)
T=0.49354 (38834/78684, PAGE_STUDY)
T=0.42922 (12129/28258, 14KJPN)
T=0.43443 (7281/16760, 8.3KJPN)
T=0.4338 (2778/6404, 1000G_30x)
T=0.4247 (2127/5008, 1000G)
T=0.4864 (2179/4480, Estonian)
T=0.4403 (1697/3854, ALSPAC)
T=0.4318 (1601/3708, TWINSUK)
T=0.4638 (1359/2930, KOREAN)
T=0.4280 (892/2084, HGDP_Stanford)
T=0.4350 (823/1892, HapMap)
T=0.423 (422/998, GoNL)
T=0.383 (300/784, PRJEB37584)
T=0.500 (300/600, NorthernSweden)
C=0.500 (300/600, NorthernSweden)
T=0.260 (109/420, SGDP_PRJ)
T=0.356 (77/216, Qatari)
T=0.476 (101/212, Vietnamese)
C=0.46 (34/74, Ancient Sardinia)
T=0.47 (19/40, GENOME_DK)
T=0.33 (12/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC22A23 : 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 307354 T=0.440896 C=0.559104
European Sub 270506 T=0.438737 C=0.561263
African Sub 9524 T=0.4840 C=0.5160
African Others Sub 372 T=0.513 C=0.487
African American Sub 9152 T=0.4828 C=0.5172
Asian Sub 3940 T=0.4391 C=0.5609
East Asian Sub 3194 T=0.4346 C=0.5654
Other Asian Sub 746 T=0.458 C=0.542
Latin American 1 Sub 1134 T=0.4524 C=0.5476
Latin American 2 Sub 7218 T=0.5759 C=0.4241
South Asian Sub 5220 T=0.2736 C=0.7264
Other Sub 9812 T=0.4476 C=0.5524


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
Allele Frequency Aggregator Total Global 302322 T=0.440583 C=0.559417
Allele Frequency Aggregator European Sub 267414 T=0.438530 C=0.561470
Allele Frequency Aggregator Other Sub 9012 T=0.4460 C=0.5540
Allele Frequency Aggregator African Sub 8384 T=0.4869 C=0.5131
Allele Frequency Aggregator Latin American 2 Sub 7218 T=0.5759 C=0.4241
Allele Frequency Aggregator South Asian Sub 5220 T=0.2736 C=0.7264
Allele Frequency Aggregator Asian Sub 3940 T=0.4391 C=0.5609
Allele Frequency Aggregator Latin American 1 Sub 1134 T=0.4524 C=0.5476
TopMed Global Study-wide 264690 T=0.466293 C=0.533707
gnomAD - Genomes Global Study-wide 139914 T=0.468795 C=0.531205
gnomAD - Genomes European Sub 75828 T=0.45456 C=0.54544
gnomAD - Genomes African Sub 41868 T=0.48419 C=0.51581
gnomAD - Genomes American Sub 13632 T=0.52017 C=0.47983
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.4039 C=0.5961
gnomAD - Genomes East Asian Sub 3118 T=0.4448 C=0.5552
gnomAD - Genomes Other Sub 2148 T=0.4804 C=0.5196
The PAGE Study Global Study-wide 78684 T=0.49354 C=0.50646
The PAGE Study AfricanAmerican Sub 32502 T=0.48046 C=0.51954
The PAGE Study Mexican Sub 10810 T=0.57613 C=0.42387
The PAGE Study Asian Sub 8318 T=0.4167 C=0.5833
The PAGE Study PuertoRican Sub 7916 T=0.4917 C=0.5083
The PAGE Study NativeHawaiian Sub 4534 T=0.6116 C=0.3884
The PAGE Study Cuban Sub 4230 T=0.4326 C=0.5674
The PAGE Study Dominican Sub 3826 T=0.4527 C=0.5473
The PAGE Study CentralAmerican Sub 2450 T=0.5649 C=0.4351
The PAGE Study SouthAmerican Sub 1982 T=0.5399 C=0.4601
The PAGE Study NativeAmerican Sub 1260 T=0.5032 C=0.4968
The PAGE Study SouthAsian Sub 856 T=0.244 C=0.756
14KJPN JAPANESE Study-wide 28258 T=0.42922 C=0.57078
8.3KJPN JAPANESE Study-wide 16760 T=0.43443 C=0.56557
1000Genomes_30x Global Study-wide 6404 T=0.4338 C=0.5662
1000Genomes_30x African Sub 1786 T=0.4810 C=0.5190
1000Genomes_30x Europe Sub 1266 T=0.4487 C=0.5513
1000Genomes_30x South Asian Sub 1202 T=0.2379 C=0.7621
1000Genomes_30x East Asian Sub 1170 T=0.4402 C=0.5598
1000Genomes_30x American Sub 980 T=0.561 C=0.439
1000Genomes Global Study-wide 5008 T=0.4247 C=0.5753
1000Genomes African Sub 1322 T=0.4818 C=0.5182
1000Genomes East Asian Sub 1008 T=0.4266 C=0.5734
1000Genomes Europe Sub 1006 T=0.4493 C=0.5507
1000Genomes South Asian Sub 978 T=0.226 C=0.774
1000Genomes American Sub 694 T=0.558 C=0.442
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4864 C=0.5136
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4403 C=0.5597
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4318 C=0.5682
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4638 A=0.0000, C=0.5362
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.4280 C=0.5720
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.391 C=0.609
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.331 C=0.669
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.277 C=0.723
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.409 C=0.591
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.653 C=0.347
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.694 C=0.306
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.49 C=0.51
HapMap Global Study-wide 1892 T=0.4350 C=0.5650
HapMap American Sub 770 T=0.410 C=0.590
HapMap African Sub 692 T=0.484 C=0.516
HapMap Asian Sub 254 T=0.409 C=0.591
HapMap Europe Sub 176 T=0.386 C=0.614
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.423 C=0.577
CNV burdens in cranial meningiomas Global Study-wide 784 T=0.383 C=0.617
CNV burdens in cranial meningiomas CRM Sub 784 T=0.383 C=0.617
Northern Sweden ACPOP Study-wide 600 T=0.500 C=0.500
SGDP_PRJ Global Study-wide 420 T=0.260 C=0.740
Qatari Global Study-wide 216 T=0.356 C=0.644
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.476 C=0.524
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 T=0.54 C=0.46
The Danish reference pan genome Danish Study-wide 40 T=0.47 C=0.53
Siberian Global Study-wide 36 T=0.33 C=0.67
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 6 NC_000006.12:g.3442666T>A
GRCh38.p14 chr 6 NC_000006.12:g.3442666T>C
GRCh37.p13 chr 6 NC_000006.11:g.3442900T>A
GRCh37.p13 chr 6 NC_000006.11:g.3442900T>C
Gene: SLC22A23, solute carrier family 22 member 23 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC22A23 transcript variant 3 NM_001286455.1:c.-190+215…

NM_001286455.1:c.-190+2153A>T

N/A Intron Variant
SLC22A23 transcript variant 4 NM_001286456.2:c.654+1324…

NM_001286456.2:c.654+13240A>T

N/A Intron Variant
SLC22A23 transcript variant 6 NM_001382317.1:c.654+1324…

NM_001382317.1:c.654+13240A>T

N/A Intron Variant
SLC22A23 transcript variant 9 NM_001382320.1:c.654+1324…

NM_001382320.1:c.654+13240A>T

N/A Intron Variant
SLC22A23 transcript variant 1 NM_015482.2:c.654+13240A>T N/A Intron Variant
SLC22A23 transcript variant 2 NM_021945.6:c.-435+2153A>T N/A Intron Variant
SLC22A23 transcript variant 7 NM_001382318.1:c. N/A Genic Upstream Transcript Variant
SLC22A23 transcript variant 8 NM_001382319.1:c. N/A Genic Upstream Transcript Variant
SLC22A23 transcript variant 10 NM_001382321.1:c. N/A Genic Upstream Transcript Variant
SLC22A23 transcript variant 5 NR_104448.1:n. N/A Intron Variant
SLC22A23 transcript variant 11 NR_168069.1:n. N/A Intron Variant
SLC22A23 transcript variant X1 XM_011514801.3:c.655-4111…

XM_011514801.3:c.655-4111A>T

N/A Intron Variant
SLC22A23 transcript variant X3 XM_017011183.2:c.655-4111…

XM_017011183.2:c.655-4111A>T

N/A Intron Variant
SLC22A23 transcript variant X4 XM_017011185.3:c.655-4111…

XM_017011185.3:c.655-4111A>T

N/A Intron Variant
SLC22A23 transcript variant X11 XM_017011186.2:c.-262+215…

XM_017011186.2:c.-262+2153A>T

N/A Intron Variant
SLC22A23 transcript variant X12 XM_047419244.1:c.655-4111…

XM_047419244.1:c.655-4111A>T

N/A Intron Variant
SLC22A23 transcript variant X5 XM_017011180.2:c.-3310= N/A 5 Prime UTR Variant
SLC22A23 transcript variant X7 XM_017011184.2:c. N/A Genic Upstream Transcript Variant
SLC22A23 transcript variant X6 XM_047419241.1:c. N/A Genic Upstream Transcript Variant
SLC22A23 transcript variant X8 XM_047419242.1:c. N/A Genic Upstream Transcript Variant
SLC22A23 transcript variant X9 XM_047419243.1:c. N/A Genic Upstream Transcript Variant
SLC22A23 transcript variant X2 XR_001743575.2:n. N/A Intron Variant
SLC22A23 transcript variant X10 XR_007059328.1:n. N/A Intron 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
GRCh38.p14 chr 6 NC_000006.12:g.3442666= NC_000006.12:g.3442666T>A NC_000006.12:g.3442666T>C
GRCh37.p13 chr 6 NC_000006.11:g.3442900= NC_000006.11:g.3442900T>A NC_000006.11:g.3442900T>C
SLC22A23 transcript variant X5 XM_017011180.2:c.-3310= XM_017011180.2:c.-3310A>T XM_017011180.2:c.-3310A>G
SLC22A23 transcript variant 3 NM_001286455.1:c.-190+2153= NM_001286455.1:c.-190+2153A>T NM_001286455.1:c.-190+2153A>G
SLC22A23 transcript variant 4 NM_001286456.2:c.654+13240= NM_001286456.2:c.654+13240A>T NM_001286456.2:c.654+13240A>G
SLC22A23 transcript variant 6 NM_001382317.1:c.654+13240= NM_001382317.1:c.654+13240A>T NM_001382317.1:c.654+13240A>G
SLC22A23 transcript variant 9 NM_001382320.1:c.654+13240= NM_001382320.1:c.654+13240A>T NM_001382320.1:c.654+13240A>G
SLC22A23 transcript variant 1 NM_015482.1:c.654+13240= NM_015482.1:c.654+13240A>T NM_015482.1:c.654+13240A>G
SLC22A23 transcript variant 1 NM_015482.2:c.654+13240= NM_015482.2:c.654+13240A>T NM_015482.2:c.654+13240A>G
SLC22A23 transcript variant 2 NM_021945.5:c.-435+2153= NM_021945.5:c.-435+2153A>T NM_021945.5:c.-435+2153A>G
SLC22A23 transcript variant 2 NM_021945.6:c.-435+2153= NM_021945.6:c.-435+2153A>T NM_021945.6:c.-435+2153A>G
SLC22A23 transcript variant X1 XM_005249285.1:c.654+13240= XM_005249285.1:c.654+13240A>T XM_005249285.1:c.654+13240A>G
SLC22A23 transcript variant X2 XM_005249286.1:c.-190+2153= XM_005249286.1:c.-190+2153A>T XM_005249286.1:c.-190+2153A>G
SLC22A23 transcript variant X1 XM_011514801.3:c.655-4111= XM_011514801.3:c.655-4111A>T XM_011514801.3:c.655-4111A>G
SLC22A23 transcript variant X3 XM_017011183.2:c.655-4111= XM_017011183.2:c.655-4111A>T XM_017011183.2:c.655-4111A>G
SLC22A23 transcript variant X4 XM_017011185.3:c.655-4111= XM_017011185.3:c.655-4111A>T XM_017011185.3:c.655-4111A>G
SLC22A23 transcript variant X11 XM_017011186.2:c.-262+2153= XM_017011186.2:c.-262+2153A>T XM_017011186.2:c.-262+2153A>G
SLC22A23 transcript variant X12 XM_047419244.1:c.655-4111= XM_047419244.1:c.655-4111A>T XM_047419244.1:c.655-4111A>G
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#.

134 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10311024 Jul 11, 2003 (116)
2 SC_SNP ss13153302 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss20262649 Feb 27, 2004 (120)
4 SSAHASNP ss22379463 Apr 05, 2004 (121)
5 PERLEGEN ss23410429 Sep 20, 2004 (123)
6 ABI ss44736668 Mar 14, 2006 (126)
7 ILLUMINA ss67516678 Nov 30, 2006 (127)
8 ILLUMINA ss67882137 Nov 30, 2006 (127)
9 ILLUMINA ss68263780 Dec 12, 2006 (127)
10 ILLUMINA ss70895749 May 26, 2008 (130)
11 ILLUMINA ss71489909 May 17, 2007 (127)
12 ILLUMINA ss74960646 Dec 07, 2007 (129)
13 KRIBB_YJKIM ss84576034 Dec 15, 2007 (130)
14 HUMANGENOME_JCVI ss98468483 Feb 06, 2009 (130)
15 BGI ss104273196 Dec 01, 2009 (131)
16 1000GENOMES ss109703278 Jan 24, 2009 (130)
17 1000GENOMES ss113811468 Jan 25, 2009 (130)
18 ENSEMBL ss142506225 Dec 01, 2009 (131)
19 ILLUMINA ss154392032 Dec 01, 2009 (131)
20 GMI ss156458343 Dec 01, 2009 (131)
21 ILLUMINA ss159567627 Dec 01, 2009 (131)
22 ILLUMINA ss160825556 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss161970082 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss163068951 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss166038622 Jul 04, 2010 (132)
26 ILLUMINA ss174168226 Jul 04, 2010 (132)
27 BUSHMAN ss201339475 Jul 04, 2010 (132)
28 1000GENOMES ss222173574 Jul 14, 2010 (132)
29 1000GENOMES ss233298116 Jul 14, 2010 (132)
30 1000GENOMES ss240389205 Jul 15, 2010 (132)
31 BL ss253993334 May 09, 2011 (134)
32 GMI ss278628460 May 04, 2012 (137)
33 GMI ss285327957 Apr 25, 2013 (138)
34 PJP ss293586042 May 09, 2011 (134)
35 ILLUMINA ss481400608 May 04, 2012 (137)
36 ILLUMINA ss481427200 May 04, 2012 (137)
37 ILLUMINA ss482406443 Sep 08, 2015 (146)
38 ILLUMINA ss485495260 May 04, 2012 (137)
39 ILLUMINA ss537410470 Sep 08, 2015 (146)
40 TISHKOFF ss558961726 Apr 25, 2013 (138)
41 SSMP ss652872932 Apr 25, 2013 (138)
42 ILLUMINA ss778956767 Aug 21, 2014 (142)
43 ILLUMINA ss783193169 Aug 21, 2014 (142)
44 ILLUMINA ss784148275 Aug 21, 2014 (142)
45 ILLUMINA ss832453016 Apr 01, 2015 (144)
46 ILLUMINA ss833078746 Aug 21, 2014 (142)
47 ILLUMINA ss833669574 Aug 21, 2014 (142)
48 ILLUMINA ss834418665 Aug 21, 2014 (142)
49 EVA-GONL ss982520228 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1073332907 Aug 21, 2014 (142)
51 1000GENOMES ss1318734045 Aug 21, 2014 (142)
52 DDI ss1430617688 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1581506113 Apr 01, 2015 (144)
54 EVA_DECODE ss1592066092 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1614819811 Apr 01, 2015 (144)
56 EVA_UK10K_TWINSUK ss1657813844 Apr 01, 2015 (144)
57 EVA_SVP ss1712830334 Apr 01, 2015 (144)
58 ILLUMINA ss1752633450 Sep 08, 2015 (146)
59 WEILL_CORNELL_DGM ss1925778027 Feb 12, 2016 (147)
60 ILLUMINA ss1946165951 Feb 12, 2016 (147)
61 ILLUMINA ss1958857405 Feb 12, 2016 (147)
62 GENOMED ss1970295383 Jul 19, 2016 (147)
63 JJLAB ss2023503533 Sep 14, 2016 (149)
64 USC_VALOUEV ss2151665480 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2281303076 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2626240195 Nov 08, 2017 (151)
67 ILLUMINA ss2634391159 Nov 08, 2017 (151)
68 GRF ss2707250621 Nov 08, 2017 (151)
69 ILLUMINA ss2711058206 Nov 08, 2017 (151)
70 GNOMAD ss2835131364 Nov 08, 2017 (151)
71 SWEGEN ss2998418505 Nov 08, 2017 (151)
72 ILLUMINA ss3022568900 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3025535139 Nov 08, 2017 (151)
74 CSHL ss3346806686 Nov 08, 2017 (151)
75 ILLUMINA ss3625892575 Oct 12, 2018 (152)
76 ILLUMINA ss3629429258 Oct 12, 2018 (152)
77 ILLUMINA ss3632311767 Oct 12, 2018 (152)
78 ILLUMINA ss3633403681 Oct 12, 2018 (152)
79 ILLUMINA ss3634125580 Oct 12, 2018 (152)
80 ILLUMINA ss3635041328 Oct 12, 2018 (152)
81 ILLUMINA ss3635806970 Oct 12, 2018 (152)
82 ILLUMINA ss3636755740 Oct 12, 2018 (152)
83 ILLUMINA ss3637559683 Oct 12, 2018 (152)
84 ILLUMINA ss3638603293 Oct 12, 2018 (152)
85 ILLUMINA ss3639304182 Oct 12, 2018 (152)
86 ILLUMINA ss3639948612 Oct 12, 2018 (152)
87 ILLUMINA ss3640748623 Oct 12, 2018 (152)
88 ILLUMINA ss3643545434 Oct 12, 2018 (152)
89 ILLUMINA ss3643993757 Oct 12, 2018 (152)
90 ILLUMINA ss3644899011 Oct 12, 2018 (152)
91 URBANLAB ss3648254587 Oct 12, 2018 (152)
92 ILLUMINA ss3653076644 Oct 12, 2018 (152)
93 EGCUT_WGS ss3666342121 Jul 13, 2019 (153)
94 EVA_DECODE ss3716463067 Jul 13, 2019 (153)
95 ILLUMINA ss3726305153 Jul 13, 2019 (153)
96 ACPOP ss3733149017 Jul 13, 2019 (153)
97 ILLUMINA ss3744265454 Jul 13, 2019 (153)
98 ILLUMINA ss3745341451 Jul 13, 2019 (153)
99 EVA ss3764537180 Jul 13, 2019 (153)
100 PAGE_CC ss3771258198 Jul 13, 2019 (153)
101 ILLUMINA ss3772835278 Jul 13, 2019 (153)
102 PACBIO ss3785354992 Jul 13, 2019 (153)
103 PACBIO ss3790723007 Jul 13, 2019 (153)
104 PACBIO ss3795600166 Jul 13, 2019 (153)
105 KHV_HUMAN_GENOMES ss3807698393 Jul 13, 2019 (153)
106 EVA ss3829699084 Apr 26, 2020 (154)
107 EVA ss3838323889 Apr 26, 2020 (154)
108 EVA ss3843763720 Apr 26, 2020 (154)
109 HGDP ss3847820362 Apr 26, 2020 (154)
110 SGDP_PRJ ss3863792192 Apr 26, 2020 (154)
111 KRGDB ss3910526058 Apr 26, 2020 (154)
112 EVA ss3984560454 Apr 26, 2021 (155)
113 EVA ss3985195158 Apr 26, 2021 (155)
114 EVA ss4017251680 Apr 26, 2021 (155)
115 TOPMED ss4691698411 Apr 26, 2021 (155)
116 TOMMO_GENOMICS ss5175892912 Apr 26, 2021 (155)
117 1000G_HIGH_COVERAGE ss5267190151 Oct 13, 2022 (156)
118 EVA ss5315116739 Oct 13, 2022 (156)
119 EVA ss5363427989 Oct 13, 2022 (156)
120 HUGCELL_USP ss5465003410 Oct 13, 2022 (156)
121 EVA ss5508329308 Oct 13, 2022 (156)
122 1000G_HIGH_COVERAGE ss5552517225 Oct 13, 2022 (156)
123 SANFORD_IMAGENETICS ss5624612895 Oct 13, 2022 (156)
124 SANFORD_IMAGENETICS ss5639646224 Oct 13, 2022 (156)
125 TOMMO_GENOMICS ss5713482664 Oct 13, 2022 (156)
126 EVA ss5799673963 Oct 13, 2022 (156)
127 YY_MCH ss5807098848 Oct 13, 2022 (156)
128 EVA ss5841709630 Oct 13, 2022 (156)
129 EVA ss5847282591 Oct 13, 2022 (156)
130 EVA ss5848078709 Oct 13, 2022 (156)
131 EVA ss5855175837 Oct 13, 2022 (156)
132 EVA ss5882412027 Oct 13, 2022 (156)
133 EVA ss5968139269 Oct 13, 2022 (156)
134 EVA ss5979767968 Oct 13, 2022 (156)
135 1000Genomes NC_000006.11 - 3442900 Oct 12, 2018 (152)
136 1000Genomes_30x NC_000006.12 - 3442666 Oct 13, 2022 (156)
137 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 3442900 Oct 12, 2018 (152)
138 Genetic variation in the Estonian population NC_000006.11 - 3442900 Oct 12, 2018 (152)
139 The Danish reference pan genome NC_000006.11 - 3442900 Apr 26, 2020 (154)
140 gnomAD - Genomes NC_000006.12 - 3442666 Apr 26, 2021 (155)
141 Genome of the Netherlands Release 5 NC_000006.11 - 3442900 Apr 26, 2020 (154)
142 HGDP-CEPH-db Supplement 1 NC_000006.10 - 3387899 Apr 26, 2020 (154)
143 HapMap NC_000006.12 - 3442666 Apr 26, 2020 (154)
144 KOREAN population from KRGDB NC_000006.11 - 3442900 Apr 26, 2020 (154)
145 Northern Sweden NC_000006.11 - 3442900 Jul 13, 2019 (153)
146 The PAGE Study NC_000006.12 - 3442666 Jul 13, 2019 (153)
147 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 3442900 Apr 26, 2021 (155)
148 CNV burdens in cranial meningiomas NC_000006.11 - 3442900 Apr 26, 2021 (155)
149 Qatari NC_000006.11 - 3442900 Apr 26, 2020 (154)
150 SGDP_PRJ NC_000006.11 - 3442900 Apr 26, 2020 (154)
151 Siberian NC_000006.11 - 3442900 Apr 26, 2020 (154)
152 8.3KJPN NC_000006.11 - 3442900 Apr 26, 2021 (155)
153 14KJPN NC_000006.12 - 3442666 Oct 13, 2022 (156)
154 TopMed NC_000006.12 - 3442666 Apr 26, 2021 (155)
155 UK 10K study - Twins NC_000006.11 - 3442900 Oct 12, 2018 (152)
156 A Vietnamese Genetic Variation Database NC_000006.11 - 3442900 Jul 13, 2019 (153)
157 ALFA NC_000006.12 - 3442666 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)
rs60975733 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
17703452, ss3910526058 NC_000006.11:3442899:T:A NC_000006.12:3442665:T:A (self)
ss3639304182, ss3639948612, ss3643993757 NC_000006.9:3387898:T:C NC_000006.12:3442665:T:C (self)
498254, ss109703278, ss113811468, ss160825556, ss161970082, ss163068951, ss166038622, ss201339475, ss253993334, ss278628460, ss285327957, ss293586042, ss481400608, ss1592066092, ss1712830334, ss3643545434, ss3847820362 NC_000006.10:3387898:T:C NC_000006.12:3442665:T:C (self)
30467118, 16957890, 12080369, 7671052, 7526940, 17703452, 6433882, 421085, 109829, 7819957, 15809172, 4181834, 33862219, 16957890, 3755835, ss222173574, ss233298116, ss240389205, ss481427200, ss482406443, ss485495260, ss537410470, ss558961726, ss652872932, ss778956767, ss783193169, ss784148275, ss832453016, ss833078746, ss833669574, ss834418665, ss982520228, ss1073332907, ss1318734045, ss1430617688, ss1581506113, ss1614819811, ss1657813844, ss1752633450, ss1925778027, ss1946165951, ss1958857405, ss1970295383, ss2023503533, ss2151665480, ss2626240195, ss2634391159, ss2707250621, ss2711058206, ss2835131364, ss2998418505, ss3022568900, ss3346806686, ss3625892575, ss3629429258, ss3632311767, ss3633403681, ss3634125580, ss3635041328, ss3635806970, ss3636755740, ss3637559683, ss3638603293, ss3640748623, ss3644899011, ss3653076644, ss3666342121, ss3733149017, ss3744265454, ss3745341451, ss3764537180, ss3772835278, ss3785354992, ss3790723007, ss3795600166, ss3829699084, ss3838323889, ss3863792192, ss3910526058, ss3984560454, ss3985195158, ss4017251680, ss5175892912, ss5315116739, ss5363427989, ss5508329308, ss5624612895, ss5639646224, ss5799673963, ss5841709630, ss5847282591, ss5848078709, ss5968139269, ss5979767968 NC_000006.11:3442899:T:C NC_000006.12:3442665:T:C (self)
40043160, 215427138, 3046691, 479667, 47319768, 529075969, 13717212306, ss2281303076, ss3025535139, ss3648254587, ss3716463067, ss3726305153, ss3771258198, ss3807698393, ss3843763720, ss4691698411, ss5267190151, ss5465003410, ss5552517225, ss5713482664, ss5807098848, ss5855175837, ss5882412027 NC_000006.12:3442665:T:C NC_000006.12:3442665:T:C (self)
ss23410429, ss44736668, ss67516678, ss67882137, ss68263780, ss70895749, ss71489909, ss74960646, ss84576034, ss98468483, ss104273196, ss142506225, ss154392032, ss156458343, ss159567627, ss174168226 NT_007592.15:3382899:T:C NC_000006.12:3442665:T:C (self)
ss10311024, ss13153302 NT_034880.2:3382898:T:C NC_000006.12:3442665:T:C (self)
ss20262649, ss22379463 NT_034880.3:3382898:T:C NC_000006.12:3442665:T:C (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 rs6921583

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