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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.

rs215095

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:15966537 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.134712 (35657/264690, TOPMED)
G=0.130278 (19821/152144, ALFA)
G=0.132501 (18547/139976, GnomAD) (+ 18 more)
G=0.30611 (8650/28258, 14KJPN)
G=0.30326 (5082/16758, 8.3KJPN)
G=0.1565 (1002/6404, 1000G_30x)
G=0.1585 (794/5008, 1000G)
G=0.1201 (538/4480, Estonian)
G=0.1271 (490/3854, ALSPAC)
G=0.1303 (483/3708, TWINSUK)
G=0.3608 (1057/2930, KOREAN)
G=0.1924 (401/2084, HGDP_Stanford)
G=0.1802 (341/1892, HapMap)
G=0.127 (127/998, GoNL)
G=0.193 (116/600, NorthernSweden)
G=0.133 (70/526, SGDP_PRJ)
G=0.157 (34/216, Qatari)
G=0.236 (51/216, Vietnamese)
G=0.17 (12/70, Ancient Sardinia)
G=0.22 (12/54, Siberian)
G=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCC1 : 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 152144 G=0.130278 A=0.869722
European Sub 127806 G=0.123820 A=0.876180
African Sub 7324 G=0.0825 A=0.9175
African Others Sub 250 G=0.084 A=0.916
African American Sub 7074 G=0.0824 A=0.9176
Asian Sub 670 G=0.310 A=0.690
East Asian Sub 506 G=0.314 A=0.686
Other Asian Sub 164 G=0.299 A=0.701
Latin American 1 Sub 884 G=0.097 A=0.903
Latin American 2 Sub 8438 G=0.2478 A=0.7522
South Asian Sub 196 G=0.143 A=0.857
Other Sub 6826 G=0.1434 A=0.8566


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 G=0.134712 A=0.865288
Allele Frequency Aggregator Total Global 152144 G=0.130278 A=0.869722
Allele Frequency Aggregator European Sub 127806 G=0.123820 A=0.876180
Allele Frequency Aggregator Latin American 2 Sub 8438 G=0.2478 A=0.7522
Allele Frequency Aggregator African Sub 7324 G=0.0825 A=0.9175
Allele Frequency Aggregator Other Sub 6826 G=0.1434 A=0.8566
Allele Frequency Aggregator Latin American 1 Sub 884 G=0.097 A=0.903
Allele Frequency Aggregator Asian Sub 670 G=0.310 A=0.690
Allele Frequency Aggregator South Asian Sub 196 G=0.143 A=0.857
gnomAD - Genomes Global Study-wide 139976 G=0.132501 A=0.867499
gnomAD - Genomes European Sub 75820 G=0.13678 A=0.86322
gnomAD - Genomes African Sub 41950 G=0.08696 A=0.91304
gnomAD - Genomes American Sub 13616 G=0.20997 A=0.79003
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.1292 A=0.8708
gnomAD - Genomes East Asian Sub 3122 G=0.3043 A=0.6957
gnomAD - Genomes Other Sub 2148 G=0.1350 A=0.8650
14KJPN JAPANESE Study-wide 28258 G=0.30611 A=0.69389
8.3KJPN JAPANESE Study-wide 16758 G=0.30326 A=0.69674
1000Genomes_30x Global Study-wide 6404 G=0.1565 A=0.8435
1000Genomes_30x African Sub 1786 G=0.0806 A=0.9194
1000Genomes_30x Europe Sub 1266 G=0.1406 A=0.8594
1000Genomes_30x South Asian Sub 1202 G=0.1181 A=0.8819
1000Genomes_30x East Asian Sub 1170 G=0.2615 A=0.7385
1000Genomes_30x American Sub 980 G=0.237 A=0.763
1000Genomes Global Study-wide 5008 G=0.1585 A=0.8415
1000Genomes African Sub 1322 G=0.0817 A=0.9183
1000Genomes East Asian Sub 1008 G=0.2619 A=0.7381
1000Genomes Europe Sub 1006 G=0.1402 A=0.8598
1000Genomes South Asian Sub 978 G=0.119 A=0.881
1000Genomes American Sub 694 G=0.238 A=0.762
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1201 A=0.8799
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1271 A=0.8729
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1303 A=0.8697
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3608 A=0.6392, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.1924 A=0.8076
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.309 A=0.691
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.138 A=0.862
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.174 A=0.826
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.128 A=0.872
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.062 A=0.938
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.227 A=0.773
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.46 A=0.54
HapMap Global Study-wide 1892 G=0.1802 A=0.8198
HapMap American Sub 770 G=0.183 A=0.817
HapMap African Sub 692 G=0.140 A=0.860
HapMap Asian Sub 254 G=0.311 A=0.689
HapMap Europe Sub 176 G=0.136 A=0.864
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.127 A=0.873
Northern Sweden ACPOP Study-wide 600 G=0.193 A=0.807
SGDP_PRJ Global Study-wide 526 G=0.133 A=0.867
Qatari Global Study-wide 216 G=0.157 A=0.843
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.236 A=0.764
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 70 G=0.17 A=0.83
Siberian Global Study-wide 54 G=0.22 A=0.78
The Danish reference pan genome Danish Study-wide 40 G=0.17 A=0.82
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 16 NC_000016.10:g.15966537G>A
GRCh38.p14 chr 16 NC_000016.10:g.15966537G>C
GRCh37.p13 chr 16 NC_000016.9:g.16060394G>A
GRCh37.p13 chr 16 NC_000016.9:g.16060394G>C
ABCC1 RefSeqGene NG_028268.2:g.21961G>A
ABCC1 RefSeqGene NG_028268.2:g.21961G>C
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1624515G>A
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1624515G>C
Gene: ABCC1, ATP binding cassette subfamily C member 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCC1 transcript variant 1 NM_004996.4:c.48+16738G>A N/A Intron Variant
ABCC1 transcript variant X5 XM_047434134.1:c.66+17277…

XM_047434134.1:c.66+17277G>A

N/A Intron Variant
ABCC1 transcript variant X10 XM_047434138.1:c.48+16738…

XM_047434138.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X11 XM_047434140.1:c.48+16738…

XM_047434140.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X12 XM_047434141.1:c.48+16738…

XM_047434141.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X14 XM_047434143.1:c.48+16738…

XM_047434143.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X15 XM_047434145.1:c.48+16738…

XM_047434145.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X16 XM_047434146.1:c.48+16738…

XM_047434146.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X17 XM_047434147.1:c.48+16738…

XM_047434147.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X18 XM_047434148.1:c.48+16738…

XM_047434148.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X19 XM_047434149.1:c.48+16738…

XM_047434149.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X20 XM_047434151.1:c.48+16738…

XM_047434151.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X21 XM_047434152.1:c.48+16738…

XM_047434152.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X22 XM_047434153.1:c.48+16738…

XM_047434153.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X23 XM_047434154.1:c.48+16738…

XM_047434154.1:c.48+16738G>A

N/A Intron Variant
ABCC1 transcript variant X8 XM_011522497.2:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X2 XM_017023237.2:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X1 XM_047434131.1:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X3 XM_047434132.1:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X4 XM_047434133.1:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X6 XM_047434135.1:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X7 XM_047434136.1:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X9 XM_047434137.1:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X13 XM_047434142.1:c. N/A Genic Upstream Transcript Variant
ABCC1 transcript variant X14 XM_047434144.1: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 G= A C
GRCh38.p14 chr 16 NC_000016.10:g.15966537= NC_000016.10:g.15966537G>A NC_000016.10:g.15966537G>C
GRCh37.p13 chr 16 NC_000016.9:g.16060394= NC_000016.9:g.16060394G>A NC_000016.9:g.16060394G>C
ABCC1 RefSeqGene NG_028268.2:g.21961= NG_028268.2:g.21961G>A NG_028268.2:g.21961G>C
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1624515= NT_187607.1:g.1624515G>A NT_187607.1:g.1624515G>C
ABCC1 transcript NM_004996.3:c.48+16738= NM_004996.3:c.48+16738G>A NM_004996.3:c.48+16738G>C
ABCC1 transcript variant 1 NM_004996.4:c.48+16738= NM_004996.4:c.48+16738G>A NM_004996.4:c.48+16738G>C
ABCC1 transcript variant X1 XM_005255326.1:c.48+16738= XM_005255326.1:c.48+16738G>A XM_005255326.1:c.48+16738G>C
ABCC1 transcript variant X2 XM_005255327.1:c.48+16738= XM_005255327.1:c.48+16738G>A XM_005255327.1:c.48+16738G>C
ABCC1 transcript variant X3 XM_005255328.1:c.48+16738= XM_005255328.1:c.48+16738G>A XM_005255328.1:c.48+16738G>C
ABCC1 transcript variant X4 XM_005255329.1:c.48+16738= XM_005255329.1:c.48+16738G>A XM_005255329.1:c.48+16738G>C
ABCC1 transcript variant X5 XM_047434134.1:c.66+17277= XM_047434134.1:c.66+17277G>A XM_047434134.1:c.66+17277G>C
ABCC1 transcript variant X10 XM_047434138.1:c.48+16738= XM_047434138.1:c.48+16738G>A XM_047434138.1:c.48+16738G>C
ABCC1 transcript variant X11 XM_047434140.1:c.48+16738= XM_047434140.1:c.48+16738G>A XM_047434140.1:c.48+16738G>C
ABCC1 transcript variant X12 XM_047434141.1:c.48+16738= XM_047434141.1:c.48+16738G>A XM_047434141.1:c.48+16738G>C
ABCC1 transcript variant X14 XM_047434143.1:c.48+16738= XM_047434143.1:c.48+16738G>A XM_047434143.1:c.48+16738G>C
ABCC1 transcript variant X15 XM_047434145.1:c.48+16738= XM_047434145.1:c.48+16738G>A XM_047434145.1:c.48+16738G>C
ABCC1 transcript variant X16 XM_047434146.1:c.48+16738= XM_047434146.1:c.48+16738G>A XM_047434146.1:c.48+16738G>C
ABCC1 transcript variant X17 XM_047434147.1:c.48+16738= XM_047434147.1:c.48+16738G>A XM_047434147.1:c.48+16738G>C
ABCC1 transcript variant X18 XM_047434148.1:c.48+16738= XM_047434148.1:c.48+16738G>A XM_047434148.1:c.48+16738G>C
ABCC1 transcript variant X19 XM_047434149.1:c.48+16738= XM_047434149.1:c.48+16738G>A XM_047434149.1:c.48+16738G>C
ABCC1 transcript variant X20 XM_047434151.1:c.48+16738= XM_047434151.1:c.48+16738G>A XM_047434151.1:c.48+16738G>C
ABCC1 transcript variant X21 XM_047434152.1:c.48+16738= XM_047434152.1:c.48+16738G>A XM_047434152.1:c.48+16738G>C
ABCC1 transcript variant X22 XM_047434153.1:c.48+16738= XM_047434153.1:c.48+16738G>A XM_047434153.1:c.48+16738G>C
ABCC1 transcript variant X23 XM_047434154.1:c.48+16738= XM_047434154.1:c.48+16738G>A XM_047434154.1:c.48+16738G>C
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#.

119 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss280527 Jul 12, 2000 (79)
2 SC_JCM ss483415 Jul 16, 2000 (80)
3 KWOK ss1238426 Oct 04, 2000 (86)
4 KWOK ss1642094 Oct 18, 2000 (87)
5 BCM_SSAHASNP ss14263664 Dec 05, 2003 (119)
6 CSHL-HAPMAP ss17563016 Feb 27, 2004 (120)
7 SSAHASNP ss21368804 Apr 05, 2004 (121)
8 AFFY ss66527850 Nov 29, 2006 (127)
9 ILLUMINA ss67623762 Nov 29, 2006 (127)
10 ILLUMINA ss71273673 May 16, 2007 (127)
11 ILLUMINA ss75371702 Dec 06, 2007 (129)
12 AFFY ss76350410 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss81410309 Dec 15, 2007 (130)
14 HGSV ss81522557 Dec 15, 2007 (130)
15 HGSV ss84104258 Dec 15, 2007 (130)
16 HUMANGENOME_JCVI ss96628153 Feb 06, 2009 (130)
17 BGI ss106464089 Feb 06, 2009 (130)
18 1000GENOMES ss109233450 Jan 23, 2009 (130)
19 1000GENOMES ss114908363 Jan 25, 2009 (130)
20 ENSEMBL ss136787077 Dec 01, 2009 (131)
21 ILLUMINA ss160507526 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss167943963 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss169301891 Jul 04, 2010 (132)
24 ILLUMINA ss173143419 Jul 04, 2010 (132)
25 AFFY ss173350221 Jul 04, 2010 (132)
26 BUSHMAN ss201501773 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss207505125 Jul 04, 2010 (132)
28 1000GENOMES ss227169989 Jul 14, 2010 (132)
29 1000GENOMES ss236972577 Jul 15, 2010 (132)
30 1000GENOMES ss243323291 Jul 15, 2010 (132)
31 BL ss255550135 May 09, 2011 (134)
32 GMI ss282456810 May 04, 2012 (137)
33 GMI ss287043216 Apr 25, 2013 (138)
34 PJP ss291928523 May 09, 2011 (134)
35 ILLUMINA ss480440891 May 04, 2012 (137)
36 ILLUMINA ss480454757 May 04, 2012 (137)
37 ILLUMINA ss481244738 Sep 08, 2015 (146)
38 ILLUMINA ss485017874 May 04, 2012 (137)
39 ILLUMINA ss537045592 Sep 08, 2015 (146)
40 TISHKOFF ss564814841 Apr 25, 2013 (138)
41 SSMP ss660560885 Apr 25, 2013 (138)
42 ILLUMINA ss778482888 Sep 08, 2015 (146)
43 ILLUMINA ss782955239 Sep 08, 2015 (146)
44 ILLUMINA ss783917417 Sep 08, 2015 (146)
45 ILLUMINA ss832211306 Sep 08, 2015 (146)
46 ILLUMINA ss833938785 Sep 08, 2015 (146)
47 EVA-GONL ss992336204 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1080524696 Aug 21, 2014 (142)
49 1000GENOMES ss1355591472 Aug 21, 2014 (142)
50 DDI ss1427793960 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1577857196 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1634118137 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1677112170 Apr 01, 2015 (144)
54 EVA_DECODE ss1696371452 Apr 01, 2015 (144)
55 EVA_SVP ss1713529487 Apr 01, 2015 (144)
56 ILLUMINA ss1752183724 Sep 08, 2015 (146)
57 HAMMER_LAB ss1808445622 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1935753910 Feb 12, 2016 (147)
59 GENOMED ss1968231946 Jul 19, 2016 (147)
60 JJLAB ss2028663757 Sep 14, 2016 (149)
61 USC_VALOUEV ss2157075286 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2211023404 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2628825968 Nov 08, 2017 (151)
64 ILLUMINA ss2633300826 Nov 08, 2017 (151)
65 GRF ss2701574164 Nov 08, 2017 (151)
66 GNOMAD ss2940909661 Nov 08, 2017 (151)
67 SWEGEN ss3014153865 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3028157438 Nov 08, 2017 (151)
69 CSHL ss3351362078 Nov 08, 2017 (151)
70 ILLUMINA ss3627489500 Oct 12, 2018 (152)
71 ILLUMINA ss3631288532 Oct 12, 2018 (152)
72 ILLUMINA ss3633115856 Oct 12, 2018 (152)
73 ILLUMINA ss3633821620 Oct 12, 2018 (152)
74 ILLUMINA ss3634634520 Oct 12, 2018 (152)
75 ILLUMINA ss3635510054 Oct 12, 2018 (152)
76 ILLUMINA ss3636325032 Oct 12, 2018 (152)
77 ILLUMINA ss3637261454 Oct 12, 2018 (152)
78 ILLUMINA ss3638116329 Oct 12, 2018 (152)
79 ILLUMINA ss3640341840 Oct 12, 2018 (152)
80 ILLUMINA ss3641069093 Oct 12, 2018 (152)
81 ILLUMINA ss3641364579 Oct 12, 2018 (152)
82 ILLUMINA ss3643098017 Oct 12, 2018 (152)
83 URBANLAB ss3650475512 Oct 12, 2018 (152)
84 EGCUT_WGS ss3681267203 Jul 13, 2019 (153)
85 EVA_DECODE ss3698941884 Jul 13, 2019 (153)
86 ACPOP ss3741380863 Jul 13, 2019 (153)
87 ILLUMINA ss3744934971 Jul 13, 2019 (153)
88 EVA ss3753749305 Jul 13, 2019 (153)
89 ILLUMINA ss3772433327 Jul 13, 2019 (153)
90 PACBIO ss3787994983 Jul 13, 2019 (153)
91 PACBIO ss3792986092 Jul 13, 2019 (153)
92 PACBIO ss3797871069 Jul 13, 2019 (153)
93 KHV_HUMAN_GENOMES ss3819043448 Jul 13, 2019 (153)
94 EVA ss3834500476 Apr 27, 2020 (154)
95 EVA ss3840855728 Apr 27, 2020 (154)
96 EVA ss3846347096 Apr 27, 2020 (154)
97 HGDP ss3847541110 Apr 27, 2020 (154)
98 SGDP_PRJ ss3884054467 Apr 27, 2020 (154)
99 KRGDB ss3933365493 Apr 27, 2020 (154)
100 EVA ss3985748807 Apr 26, 2021 (155)
101 EVA ss4017728549 Apr 26, 2021 (155)
102 VINODS ss4032511938 Apr 26, 2021 (155)
103 TOPMED ss5009531069 Apr 26, 2021 (155)
104 TOMMO_GENOMICS ss5218668937 Apr 26, 2021 (155)
105 1000G_HIGH_COVERAGE ss5300321620 Oct 17, 2022 (156)
106 EVA ss5315828094 Oct 17, 2022 (156)
107 EVA ss5422644120 Oct 17, 2022 (156)
108 HUGCELL_USP ss5493821510 Oct 17, 2022 (156)
109 EVA ss5511578234 Oct 17, 2022 (156)
110 1000G_HIGH_COVERAGE ss5602637979 Oct 17, 2022 (156)
111 SANFORD_IMAGENETICS ss5658569576 Oct 17, 2022 (156)
112 TOMMO_GENOMICS ss5773221538 Oct 17, 2022 (156)
113 EVA ss5799953870 Oct 17, 2022 (156)
114 YY_MCH ss5815803162 Oct 17, 2022 (156)
115 EVA ss5846175202 Oct 17, 2022 (156)
116 EVA ss5851512820 Oct 17, 2022 (156)
117 EVA ss5898486392 Oct 17, 2022 (156)
118 EVA ss5949999183 Oct 17, 2022 (156)
119 EVA ss5980909393 Oct 17, 2022 (156)
120 1000Genomes NC_000016.9 - 16060394 Oct 12, 2018 (152)
121 1000Genomes_30x NC_000016.10 - 15966537 Oct 17, 2022 (156)
122 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 16060394 Oct 12, 2018 (152)
123 Genetic variation in the Estonian population NC_000016.9 - 16060394 Oct 12, 2018 (152)
124 The Danish reference pan genome NC_000016.9 - 16060394 Apr 27, 2020 (154)
125 gnomAD - Genomes NC_000016.10 - 15966537 Apr 26, 2021 (155)
126 Genome of the Netherlands Release 5 NC_000016.9 - 16060394 Apr 27, 2020 (154)
127 HGDP-CEPH-db Supplement 1 NC_000016.8 - 15967895 Apr 27, 2020 (154)
128 HapMap NC_000016.10 - 15966537 Apr 27, 2020 (154)
129 KOREAN population from KRGDB NC_000016.9 - 16060394 Apr 27, 2020 (154)
130 Northern Sweden NC_000016.9 - 16060394 Jul 13, 2019 (153)
131 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 16060394 Apr 26, 2021 (155)
132 Qatari NC_000016.9 - 16060394 Apr 27, 2020 (154)
133 SGDP_PRJ NC_000016.9 - 16060394 Apr 27, 2020 (154)
134 Siberian NC_000016.9 - 16060394 Apr 27, 2020 (154)
135 8.3KJPN NC_000016.9 - 16060394 Apr 26, 2021 (155)
136 14KJPN NC_000016.10 - 15966537 Oct 17, 2022 (156)
137 TopMed NC_000016.10 - 15966537 Apr 26, 2021 (155)
138 UK 10K study - Twins NC_000016.9 - 16060394 Oct 12, 2018 (152)
139 A Vietnamese Genetic Variation Database NC_000016.9 - 16060394 Jul 13, 2019 (153)
140 ALFA NC_000016.10 - 15966537 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)
rs59908999 Feb 27, 2009 (130)
rs60461521 May 26, 2008 (130)
rs386558842 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
219002, ss66527850, ss76350410, ss81522557, ss84104258, ss109233450, ss114908363, ss167943963, ss169301891, ss173350221, ss201501773, ss207505125, ss255550135, ss282456810, ss287043216, ss291928523, ss480440891, ss1696371452, ss1713529487, ss3643098017, ss3847541110 NC_000016.8:15967894:G:A NC_000016.10:15966536:G:A (self)
68732935, 38162613, 27005451, 4071958, 17023277, 40542887, 14665728, 974734, 17795832, 36071447, 9591640, 76638244, 38162613, 8477786, ss227169989, ss236972577, ss243323291, ss480454757, ss481244738, ss485017874, ss537045592, ss564814841, ss660560885, ss778482888, ss782955239, ss783917417, ss832211306, ss833938785, ss992336204, ss1080524696, ss1355591472, ss1427793960, ss1577857196, ss1634118137, ss1677112170, ss1752183724, ss1808445622, ss1935753910, ss1968231946, ss2028663757, ss2157075286, ss2628825968, ss2633300826, ss2701574164, ss2940909661, ss3014153865, ss3351362078, ss3627489500, ss3631288532, ss3633115856, ss3633821620, ss3634634520, ss3635510054, ss3636325032, ss3637261454, ss3638116329, ss3640341840, ss3641069093, ss3641364579, ss3681267203, ss3741380863, ss3744934971, ss3753749305, ss3772433327, ss3787994983, ss3792986092, ss3797871069, ss3834500476, ss3840855728, ss3884054467, ss3933365493, ss3985748807, ss4017728549, ss5218668937, ss5315828094, ss5422644120, ss5511578234, ss5658569576, ss5799953870, ss5846175202, ss5949999183, ss5980909393 NC_000016.9:16060393:G:A NC_000016.10:15966536:G:A (self)
90163914, 484344636, 1358978, 107058642, 225076730, 2377077225, ss2211023404, ss3028157438, ss3650475512, ss3698941884, ss3819043448, ss3846347096, ss5009531069, ss5300321620, ss5493821510, ss5602637979, ss5773221538, ss5815803162, ss5851512820, ss5898486392 NC_000016.10:15966536:G:A NC_000016.10:15966536:G:A (self)
ss14263664, ss17563016, ss21368804 NT_010393.14:7372612:G:A NC_000016.10:15966536:G:A (self)
ss280527, ss483415, ss1238426, ss1642094, ss67623762, ss71273673, ss75371702, ss81410309, ss96628153, ss106464089, ss136787077, ss160507526, ss173143419 NT_010393.16:16000393:G:A NC_000016.10:15966536:G:A (self)
ss4032511938 NT_187607.1:1624514:G:A NC_000016.10:15966536:G:A (self)
40542887, ss3933365493 NC_000016.9:16060393:G:C NC_000016.10:15966536:G: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 rs215095

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