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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.

rs9939609

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr16:53786615 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.400918 (106119/264690, TOPMED)
A=0.407922 (60769/148972, GnomAD_genomes)
A=0.39857 (33556/84190, ALFA) (+ 20 more)
A=0.36971 (29090/78684, PAGE_STUDY)
A=0.20083 (15553/77444, 38KJPN)
A=0.1273 (921/7234, Korea4K)
A=0.3440 (2203/6404, 1000G_30X)
A=0.3401 (1703/5008, 1000G)
A=0.4435 (1987/4480, Estonian)
A=0.3895 (1501/3854, ALSPAC)
A=0.4008 (1486/3708, TWINSUK)
A=0.1307 (383/2930, KOREAN)
A=0.4076 (728/1786, HapMap)
A=0.4030 (457/1134, Daghestan)
A=0.370 (369/998, GoNL)
A=0.119 (94/792, PRJEB37584)
A=0.385 (231/600, NorthernSweden)
T=0.388 (101/260, SGDP_PRJ)
T=0.468 (101/216, Qatari)
A=0.148 (32/216, Vietnamese)
A=0.48 (32/66, Ancient Sardinia)
A=0.40 (16/40, GENOME_DK)
T=0.36 (8/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FTO : Intron Variant
Publications
805 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 84190 T=0.60143 A=0.39857 0.368072 0.165222 0.466706 16
European Sub 73860 T=0.58975 A=0.41025 0.351313 0.171812 0.476875 5
African Sub 3744 T=0.5256 A=0.4744 0.264957 0.213675 0.521368 3
African Others Sub 166 T=0.452 A=0.548 0.204819 0.301205 0.493976 0
African American Sub 3578 T=0.5291 A=0.4709 0.267747 0.209614 0.522638 3
Asian Sub 3274 T=0.8699 A=0.1301 0.753818 0.01405 0.232132 1
East Asian Sub 2648 T=0.8754 A=0.1246 0.765106 0.01435 0.220544 0
Other Asian Sub 626 T=0.847 A=0.153 0.70607 0.01278 0.28115 1
Latin American 1 Sub 436 T=0.573 A=0.427 0.321101 0.174312 0.504587 0
Latin American 2 Sub 928 T=0.747 A=0.253 0.575431 0.081897 0.342672 3
South Asian Sub 272 T=0.713 A=0.287 0.529412 0.102941 0.367647 1
Other Sub 1676 T=0.6695 A=0.3305 0.454654 0.115752 0.429594 0


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=0.599082 A=0.400918
gnomAD v4 - Genomes Global Study-wide 148972 T=0.592078 A=0.407922
gnomAD v4 - Genomes European Sub 78506 T=0.59323 A=0.40677
gnomAD v4 - Genomes African Sub 41424 T=0.52120 A=0.47880
gnomAD v4 - Genomes American Sub 15278 T=0.68510 A=0.31490
gnomAD v4 - Genomes East Asian Sub 5176 T=0.8452 A=0.1548
gnomAD v4 - Genomes South Asian Sub 4822 T=0.6852 A=0.3148
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3472 T=0.4937 A=0.5063
gnomAD v4 - Genomes Middle Eastern sub 294 T=0.616 A=0.384
Allele Frequency Aggregator Total Global 84190 T=0.60143 A=0.39857
Allele Frequency Aggregator European Sub 73860 T=0.58975 A=0.41025
Allele Frequency Aggregator African Sub 3744 T=0.5256 A=0.4744
Allele Frequency Aggregator Asian Sub 3274 T=0.8699 A=0.1301
Allele Frequency Aggregator Other Sub 1676 T=0.6695 A=0.3305
Allele Frequency Aggregator Latin American 2 Sub 928 T=0.747 A=0.253
Allele Frequency Aggregator Latin American 1 Sub 436 T=0.573 A=0.427
Allele Frequency Aggregator South Asian Sub 272 T=0.713 A=0.287
The PAGE Study Global Study-wide 78684 T=0.63029 A=0.36971
The PAGE Study AfricanAmerican Sub 32500 T=0.52418 A=0.47582
The PAGE Study Mexican Sub 10808 T=0.74417 A=0.25583
The PAGE Study Asian Sub 8318 T=0.7937 A=0.2063
The PAGE Study PuertoRican Sub 7918 T=0.6474 A=0.3526
The PAGE Study NativeHawaiian Sub 4534 T=0.7697 A=0.2303
The PAGE Study Cuban Sub 4230 T=0.5941 A=0.4059
The PAGE Study Dominican Sub 3828 T=0.5593 A=0.4407
The PAGE Study CentralAmerican Sub 2450 T=0.7265 A=0.2735
The PAGE Study SouthAmerican Sub 1982 T=0.7558 A=0.2442
The PAGE Study NativeAmerican Sub 1260 T=0.6444 A=0.3556
The PAGE Study SouthAsian Sub 856 T=0.646 A=0.354
38KJPN JAPANESE Study-wide 77444 T=0.79917 A=0.20083
Korean Genome Project 4K KOREAN Study-wide 7234 T=0.8727 A=0.1273
1000Genomes_30X Global Study-wide 6404 T=0.6560 A=0.3440
1000Genomes_30X African Sub 1786 T=0.5101 A=0.4899
1000Genomes_30X Europe Sub 1266 T=0.5798 A=0.4202
1000Genomes_30X South Asian Sub 1202 T=0.7105 A=0.2895
1000Genomes_30X East Asian Sub 1170 T=0.8333 A=0.1667
1000Genomes_30X American Sub 980 T=0.742 A=0.258
1000Genomes Global Study-wide 5008 T=0.6599 A=0.3401
1000Genomes African Sub 1322 T=0.5061 A=0.4939
1000Genomes East Asian Sub 1008 T=0.8313 A=0.1687
1000Genomes Europe Sub 1006 T=0.5865 A=0.4135
1000Genomes South Asian Sub 978 T=0.712 A=0.288
1000Genomes American Sub 694 T=0.738 A=0.262
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5565 A=0.4435
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6105 A=0.3895
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5992 A=0.4008
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8693 A=0.1307
HapMap Global Study-wide 1786 T=0.5924 A=0.4076
HapMap African Sub 686 T=0.455 A=0.545
HapMap American Sub 670 T=0.664 A=0.336
HapMap Asian Sub 254 T=0.815 A=0.185
HapMap Europe Sub 176 T=0.534 A=0.466
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.5970 A=0.4030
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.570 A=0.430
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.618 A=0.382
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.705 A=0.295
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.528 A=0.472
Genome-wide autozygosity in Daghestan South Asian Sub 96 T=0.64 A=0.36
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.72 A=0.28
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.630 A=0.370
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.881 A=0.119
CNV burdens in cranial meningiomas CRM Sub 792 T=0.881 A=0.119
Northern Sweden ACPOP Study-wide 600 T=0.615 A=0.385
SGDP_PRJ Global Study-wide 260 T=0.388 A=0.612
Qatari Global Study-wide 216 T=0.468 A=0.532
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.852 A=0.148
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 T=0.52 A=0.48
The Danish reference pan genome Danish Study-wide 40 T=0.60 A=0.40
Siberian Global Study-wide 22 T=0.36 A=0.64
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.53786615T>A
GRCh37.p13 chr 16 NC_000016.9:g.53820527T>A
FTO RefSeqGene NG_012969.2:g.87654T>A
FTO RefSeqGene NG_012969.1:g.87653T>A
Gene: FTO, FTO alpha-ketoglutarate dependent dioxygenase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FTO transcript variant 3 NM_001080432.3:c.46-23525…

NM_001080432.3:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 2 NM_001363891.1:c.46-23525…

NM_001363891.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 1 NM_001363894.1:c.46-23525…

NM_001363894.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 4 NM_001363896.1:c.46-23525…

NM_001363896.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 5 NM_001363897.1:c.46-39249…

NM_001363897.1:c.46-39249T>A

 		N/A Intron Variant
FTO transcript variant 6 NM_001363898.1:c.46-23525…

NM_001363898.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 7 NM_001363899.1:c.46-23525…

NM_001363899.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 8 NM_001363900.1:c.46-23525…

NM_001363900.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 9 NM_001363901.1:c.46-23525…

NM_001363901.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 10 NM_001363903.1:c.46-23525…

NM_001363903.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 11 NM_001363905.1:c.-647-235…

NM_001363905.1:c.-647-23525T>A

 		N/A Intron Variant
FTO transcript variant 12 NM_001363988.1:c.46-23525…

NM_001363988.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant 13 NR_156761.1:n. N/A Intron Variant
FTO transcript variant X4 XM_011523314.4:c.46-23525…

XM_011523314.4:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X5 XM_011523315.4:c.46-23525…

XM_011523315.4:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X7 XM_011523316.4:c.46-23525…

XM_011523316.4:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X1 XM_017023654.3:c.46-23525…

XM_017023654.3:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X8 XM_017023656.3:c.46-23525…

XM_017023656.3:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X9 XM_017023657.3:c.46-23525…

XM_017023657.3:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X11 XM_024450437.2:c.46-23525…

XM_024450437.2:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X2 XM_047434606.1:c.46-23525…

XM_047434606.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X3 XM_047434607.1:c.46-23525…

XM_047434607.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X6 XM_047434608.1:c.46-23525…

XM_047434608.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X10 XM_047434609.1:c.46-23525…

XM_047434609.1:c.46-23525T>A

 		N/A Intron Variant
FTO transcript variant X12 XR_007064911.1: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
GRCh38.p14 chr 16 NC_000016.10:g.53786615= NC_000016.10:g.53786615T>A
GRCh37.p13 chr 16 NC_000016.9:g.53820527= NC_000016.9:g.53820527T>A
FTO RefSeqGene NG_012969.2:g.87654= NG_012969.2:g.87654T>A
FTO RefSeqGene NG_012969.1:g.87653= NG_012969.1:g.87653T>A
FTO transcript variant 3 NM_001080432.2:c.46-23525= NM_001080432.2:c.46-23525T>A
FTO transcript variant 3 NM_001080432.3:c.46-23525= NM_001080432.3:c.46-23525T>A
FTO transcript variant 2 NM_001363891.1:c.46-23525= NM_001363891.1:c.46-23525T>A
FTO transcript variant 1 NM_001363894.1:c.46-23525= NM_001363894.1:c.46-23525T>A
FTO transcript variant 4 NM_001363896.1:c.46-23525= NM_001363896.1:c.46-23525T>A
FTO transcript variant 5 NM_001363897.1:c.46-39249= NM_001363897.1:c.46-39249T>A
FTO transcript variant 6 NM_001363898.1:c.46-23525= NM_001363898.1:c.46-23525T>A
FTO transcript variant 7 NM_001363899.1:c.46-23525= NM_001363899.1:c.46-23525T>A
FTO transcript variant 8 NM_001363900.1:c.46-23525= NM_001363900.1:c.46-23525T>A
FTO transcript variant 9 NM_001363901.1:c.46-23525= NM_001363901.1:c.46-23525T>A
FTO transcript variant 10 NM_001363903.1:c.46-23525= NM_001363903.1:c.46-23525T>A
FTO transcript variant 11 NM_001363905.1:c.-647-23525= NM_001363905.1:c.-647-23525T>A
FTO transcript variant 12 NM_001363988.1:c.46-23525= NM_001363988.1:c.46-23525T>A
FTO transcript variant X4 XM_011523314.4:c.46-23525= XM_011523314.4:c.46-23525T>A
FTO transcript variant X5 XM_011523315.4:c.46-23525= XM_011523315.4:c.46-23525T>A
FTO transcript variant X7 XM_011523316.4:c.46-23525= XM_011523316.4:c.46-23525T>A
FTO transcript variant X1 XM_017023654.3:c.46-23525= XM_017023654.3:c.46-23525T>A
FTO transcript variant X8 XM_017023656.3:c.46-23525= XM_017023656.3:c.46-23525T>A
FTO transcript variant X9 XM_017023657.3:c.46-23525= XM_017023657.3:c.46-23525T>A
FTO transcript variant X11 XM_024450437.2:c.46-23525= XM_024450437.2:c.46-23525T>A
FTO transcript variant X2 XM_047434606.1:c.46-23525= XM_047434606.1:c.46-23525T>A
FTO transcript variant X3 XM_047434607.1:c.46-23525= XM_047434607.1:c.46-23525T>A
FTO transcript variant X6 XM_047434608.1:c.46-23525= XM_047434608.1:c.46-23525T>A
FTO transcript variant X10 XM_047434609.1:c.46-23525= XM_047434609.1:c.46-23525T>A
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#.

126 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss13778861 Dec 05, 2003 (119)
2 PERLEGEN ss24411520 Sep 20, 2004 (123)
3 AFFY ss66219980 Nov 30, 2006 (127)
4 AFFY ss76366276 Dec 07, 2007 (129)
5 HGSV ss78017758 Dec 07, 2007 (129)
6 HGSV ss81498838 Dec 15, 2007 (130)
7 KRIBB_YJKIM ss82632678 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss90396704 Mar 24, 2008 (129)
9 BGI ss103295301 Dec 01, 2009 (131)
10 1000GENOMES ss109331323 Jan 24, 2009 (130)
11 1000GENOMES ss115104290 Jan 25, 2009 (130)
12 ILLUMINA-UK ss118256364 Feb 14, 2009 (130)
13 WTCCC ss120252622 Dec 01, 2009 (131)
14 ENSEMBL ss136729437 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss168226664 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss169759008 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss171258868 Jul 04, 2010 (132)
18 AFFY ss173394511 Jul 04, 2010 (132)
19 PAGE_STUDY ss181834432 Jul 04, 2010 (132)
20 BUSHMAN ss201707335 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss207479464 Jul 04, 2010 (132)
22 1000GENOMES ss227247713 Jul 14, 2010 (132)
23 WTCCC ss230384217 Jul 04, 2010 (132)
24 1000GENOMES ss237029052 Jul 15, 2010 (132)
25 1000GENOMES ss243367297 Jul 15, 2010 (132)
26 ILLUMINA ss244316144 Jul 04, 2010 (132)
27 BL ss255710131 May 09, 2011 (134)
28 GMI ss287077166 Apr 25, 2013 (138)
29 PJP ss291845391 May 09, 2011 (134)
30 ILLUMINA ss410816955 Sep 17, 2011 (135)
31 BROAD_NHGRI_T2D ss411632765 Jul 19, 2016 (147)
32 PAGE_STUDY ss469414612 May 04, 2012 (137)
33 EXOME_CHIP ss491508391 May 04, 2012 (137)
34 TISHKOFF ss564906461 Apr 25, 2013 (138)
35 SSMP ss660678339 Apr 25, 2013 (138)
36 ILLUMINA ss780687677 Sep 08, 2015 (146)
37 ILLUMINA ss783361244 Sep 08, 2015 (146)
38 EVA-GONL ss992500237 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1080630626 Aug 21, 2014 (142)
40 1000GENOMES ss1356293527 Aug 21, 2014 (142)
41 HAMMER_LAB ss1397715622 Sep 08, 2015 (146)
42 DDI ss1427850482 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1577917948 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1634446617 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1677440650 Apr 01, 2015 (144)
46 EVA_DECODE ss1696534619 Apr 01, 2015 (144)
47 EVA_SVP ss1713539764 Apr 01, 2015 (144)
48 ILLUMINA ss1752194450 Sep 08, 2015 (146)
49 HAMMER_LAB ss1808517928 Sep 08, 2015 (146)
50 ILLUMINA ss1917907506 Feb 12, 2016 (147)
51 WEILL_CORNELL_DGM ss1935936222 Feb 12, 2016 (147)
52 ILLUMINA ss1946415079 Feb 12, 2016 (147)
53 ILLUMINA ss1959679190 Feb 12, 2016 (147)
54 JJLAB ss2028750201 Sep 14, 2016 (149)
55 ILLUMINA ss2094799859 Dec 20, 2016 (150)
56 ILLUMINA ss2095066963 Dec 20, 2016 (150)
57 NUTR_AND_IMMUNOL_LAB ss2137544316 Oct 17, 2022 (156)
58 USC_VALOUEV ss2157186484 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2212257740 Dec 20, 2016 (150)
60 ILLUMINA ss2633318957 Nov 08, 2017 (151)
61 ILLUMINA ss2633318958 Nov 08, 2017 (151)
62 GRF ss2701709812 Nov 08, 2017 (151)
63 ILLUMINA ss2710833151 Nov 08, 2017 (151)
64 GNOMAD ss2943153155 Nov 08, 2017 (151)
65 AFFY ss2985068819 Nov 08, 2017 (151)
66 AFFY ss2985704449 Nov 08, 2017 (151)
67 SWEGEN ss3014532643 Nov 08, 2017 (151)
68 ILLUMINA ss3021706750 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3028193593 Nov 08, 2017 (151)
70 CSHL ss3351456744 Nov 08, 2017 (151)
71 ILLUMINA ss3627525173 Oct 12, 2018 (152)
72 ILLUMINA ss3634642344 Oct 12, 2018 (152)
73 ILLUMINA ss3640349663 Oct 12, 2018 (152)
74 ILLUMINA ss3644668160 Oct 12, 2018 (152)
75 ILLUMINA ss3652115578 Oct 12, 2018 (152)
76 ILLUMINA ss3652115579 Oct 12, 2018 (152)
77 ILLUMINA ss3653840690 Oct 12, 2018 (152)
78 EGCUT_WGS ss3681508220 Jul 13, 2019 (153)
79 EVA_DECODE ss3699286013 Jul 13, 2019 (153)
80 ILLUMINA ss3725562552 Jul 13, 2019 (153)
81 ACPOP ss3741520592 Jul 13, 2019 (153)
82 ILLUMINA ss3744432259 Jul 13, 2019 (153)
83 ILLUMINA ss3744942762 Jul 13, 2019 (153)
84 EVA ss3753950564 Jul 13, 2019 (153)
85 PAGE_CC ss3771879886 Jul 13, 2019 (153)
86 ILLUMINA ss3772441042 Jul 13, 2019 (153)
87 KHV_HUMAN_GENOMES ss3819239059 Jul 13, 2019 (153)
88 EVA ss3834575109 Apr 27, 2020 (154)
89 EVA ss3840893078 Apr 27, 2020 (154)
90 EVA ss3846384905 Apr 27, 2020 (154)
91 SGDP_PRJ ss3884462119 Apr 27, 2020 (154)
92 KRGDB ss3933950502 Apr 27, 2020 (154)
93 EVA ss3984712971 Apr 27, 2021 (155)
94 EVA ss3985757168 Apr 27, 2021 (155)
95 EVA ss4381335183 Apr 27, 2021 (155)
96 TOMMO_GENOMICS ss6163488937 Nov 03, 2024 (157)
97 EVA ss6271453597 Nov 03, 2024 (157)
98 EVA ss6316208150 Nov 03, 2024 (157)
99 EVA ss6322023752 Nov 03, 2024 (157)
100 EVA ss6322549174 Nov 03, 2024 (157)
101 EVA ss6327793874 Nov 03, 2024 (157)
102 EVA ss6333131452 Nov 03, 2024 (157)
103 YEGNASUBRAMANIAN_LAB ss6346620156 Nov 03, 2024 (157)
104 KOGIC ss6393939634 Nov 03, 2024 (157)
105 GNOMAD ss6997919981 Nov 03, 2024 (157)
106 TOPMED ss8015819688 Nov 03, 2024 (157)
107 TOMMO_GENOMICS ss8219628094 Nov 03, 2024 (157)
108 EVA ss8237563998 Nov 03, 2024 (157)
109 1000G_HIGH_COVERAGE ss8301002428 Nov 03, 2024 (157)
110 EVA ss8315838277 Nov 03, 2024 (157)
111 EVA ss8423790926 Nov 03, 2024 (157)
112 HUGCELL_USP ss8494347790 Nov 03, 2024 (157)
113 EVA ss8511613892 Nov 03, 2024 (157)
114 1000G_HIGH_COVERAGE ss8603673217 Nov 03, 2024 (157)
115 SANFORD_IMAGENETICS ss8624380231 Nov 03, 2024 (157)
116 SANFORD_IMAGENETICS ss8658927468 Nov 03, 2024 (157)
117 TOMMO_GENOMICS ss8774654728 Nov 03, 2024 (157)
118 YY_MCH ss8815982644 Nov 03, 2024 (157)
119 EVA ss8846425326 Nov 03, 2024 (157)
120 EVA ss8847771243 Nov 03, 2024 (157)
121 EVA ss8851570125 Nov 03, 2024 (157)
122 EVA ss8899147521 Nov 03, 2024 (157)
123 EVA ss8950319072 Nov 03, 2024 (157)
124 EVA ss8979485509 Nov 03, 2024 (157)
125 EVA ss8981801170 Nov 03, 2024 (157)
126 EVA ss8981801171 Nov 03, 2024 (157)
127 1000Genomes NC_000016.9 - 53820527 Oct 12, 2018 (152)
128 1000Genomes_30X NC_000016.10 - 53786615 Nov 03, 2024 (157)
129 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 53820527 Oct 12, 2018 (152)
130 Genome-wide autozygosity in Daghestan NC_000016.8 - 52378028 Apr 27, 2020 (154)
131 Genetic variation in the Estonian population NC_000016.9 - 53820527 Oct 12, 2018 (152)
132 The Danish reference pan genome NC_000016.9 - 53820527 Apr 27, 2020 (154)
133 gnomAD v4 - Genomes NC_000016.10 - 53786615 Nov 03, 2024 (157)
134 Genome of the Netherlands Release 5 NC_000016.9 - 53820527 Apr 27, 2020 (154)
135 HapMap NC_000016.10 - 53786615 Apr 27, 2020 (154)
136 KOREAN population from KRGDB NC_000016.9 - 53820527 Apr 27, 2020 (154)
137 Korean Genome Project 4K NC_000016.10 - 53786615 Nov 03, 2024 (157)
138 Northern Sweden NC_000016.9 - 53820527 Jul 13, 2019 (153)
139 The PAGE Study NC_000016.10 - 53786615 Jul 13, 2019 (153)
140 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 53820527 Apr 27, 2021 (155)
141 CNV burdens in cranial meningiomas NC_000016.9 - 53820527 Apr 27, 2021 (155)
142 Qatari NC_000016.9 - 53820527 Apr 27, 2020 (154)
143 SGDP_PRJ NC_000016.9 - 53820527 Apr 27, 2020 (154)
144 Siberian NC_000016.9 - 53820527 Apr 27, 2020 (154)
145 38KJPN NC_000016.10 - 53786615 Nov 03, 2024 (157)
146 TopMed NC_000016.10 - 53786615 Apr 27, 2021 (155)
147 UK 10K study - Twins NC_000016.9 - 53820527 Oct 12, 2018 (152)
148 A Vietnamese Genetic Variation Database NC_000016.9 - 53820527 Jul 13, 2019 (153)
149 ALFA NC_000016.10 - 53786615 Nov 03, 2024 (157)
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)
rs17817682 Oct 08, 2004 (123)
rs58374961 May 24, 2008 (130)
rs61046791 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
185623, ss66219980, ss76366276, ss78017758, ss81498838, ss90396704, ss109331323, ss115104290, ss118256364, ss168226664, ss169759008, ss171258868, ss173394511, ss201707335, ss207479464, ss255710131, ss287077166, ss291845391, ss1397715622, ss1696534619, ss1713539764 NC_000016.8:52378027:T:A NC_000016.10:53786614:T:A (self)
69457503, 38525267, 27246468, 4130298, 17180111, 41127896, 14805457, 983095, 262506, 17978144, 36479099, 9702838, 38525267, 8546693, ss227247713, ss237029052, ss243367297, ss491508391, ss564906461, ss660678339, ss780687677, ss783361244, ss992500237, ss1080630626, ss1356293527, ss1427850482, ss1577917948, ss1634446617, ss1677440650, ss1752194450, ss1808517928, ss1917907506, ss1935936222, ss1946415079, ss1959679190, ss2028750201, ss2094799859, ss2095066963, ss2157186484, ss2633318957, ss2633318958, ss2701709812, ss2710833151, ss2943153155, ss2985068819, ss2985704449, ss3014532643, ss3021706750, ss3351456744, ss3627525173, ss3634642344, ss3640349663, ss3644668160, ss3652115578, ss3652115579, ss3653840690, ss3681508220, ss3741520592, ss3744432259, ss3744942762, ss3753950564, ss3772441042, ss3834575109, ss3840893078, ss3884462119, ss3933950502, ss3984712971, ss3985757168, ss6271453597, ss6316208150, ss6322549174, ss6327793874, ss6333131452, ss6346620156, ss8219628094, ss8237563998, ss8315838277, ss8423790926, ss8511613892, ss8624380231, ss8658927468, ss8846425326, ss8847771243, ss8950319072, ss8979485509, ss8981801170, ss8981801171 NC_000016.9:53820526:T:A NC_000016.10:53786614:T:A (self)
91199152, 525386081, 1384253, 43791532, 1101355, 180864757, 231365349, 1530280666, ss2137544316, ss2212257740, ss3028193593, ss3699286013, ss3725562552, ss3771879886, ss3819239059, ss3846384905, ss4381335183, ss6163488937, ss6322023752, ss6393939634, ss6997919981, ss8015819688, ss8301002428, ss8494347790, ss8603673217, ss8774654728, ss8815982644, ss8851570125, ss8899147521 NC_000016.10:53786614:T:A NC_000016.10:53786614:T:A (self)
ss13778861 NT_010498.14:2544444:T:A NC_000016.10:53786614:T:A (self)
ss24411520, ss82632678, ss103295301, ss120252622, ss136729437, ss181834432, ss230384217, ss244316144, ss410816955, ss411632765, ss469414612 NT_010498.15:7434725:T:A NC_000016.10:53786614:T:A (self)
Help

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

805 citations for rs9939609
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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.post834+74d9d5e