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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.

rs11076008

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:53893411 (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
A=0.355015 (93969/264690, TOPMED)
A=0.214619 (46098/214790, ALFA)
A=0.16502 (4663/28258, 14KJPN) (+ 21 more)
A=0.16498 (2765/16760, 8.3KJPN)
A=0.3662 (2345/6404, 1000G_30x)
A=0.3530 (1768/5008, 1000G)
A=0.1692 (758/4480, Estonian)
A=0.1959 (755/3854, ALSPAC)
A=0.1936 (718/3708, TWINSUK)
A=0.1113 (326/2930, KOREAN)
A=0.2663 (555/2084, HGDP_Stanford)
A=0.4053 (766/1890, HapMap)
A=0.1141 (209/1832, Korea1K)
A=0.2205 (250/1134, Daghestan)
A=0.196 (196/998, GoNL)
A=0.116 (92/792, PRJEB37584)
A=0.147 (88/600, NorthernSweden)
G=0.359 (84/234, SGDP_PRJ)
A=0.269 (58/216, Qatari)
A=0.210 (45/214, Vietnamese)
A=0.11 (6/56, Ancient Sardinia)
A=0.25 (10/40, GENOME_DK)
G=0.50 (8/16, Siberian)
A=0.50 (8/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FTO : Intron Variant
Publications
2 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 214790 G=0.785381 A=0.214619, C=0.000000
European Sub 187740 G=0.802807 A=0.197193, C=0.000000
African Sub 7204 G=0.3422 A=0.6578, C=0.0000
African Others Sub 246 G=0.199 A=0.801, C=0.000
African American Sub 6958 G=0.3472 A=0.6528, C=0.0000
Asian Sub 732 G=0.858 A=0.142, C=0.000
East Asian Sub 590 G=0.851 A=0.149, C=0.000
Other Asian Sub 142 G=0.887 A=0.113, C=0.000
Latin American 1 Sub 778 G=0.735 A=0.265, C=0.000
Latin American 2 Sub 6600 G=0.8048 A=0.1952, C=0.0000
South Asian Sub 5000 G=0.7760 A=0.2240, C=0.0000
Other Sub 6736 G=0.7595 A=0.2405, C=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 G=0.644985 A=0.355015
Allele Frequency Aggregator Total Global 214790 G=0.785381 A=0.214619, C=0.000000
Allele Frequency Aggregator European Sub 187740 G=0.802807 A=0.197193, C=0.000000
Allele Frequency Aggregator African Sub 7204 G=0.3422 A=0.6578, C=0.0000
Allele Frequency Aggregator Other Sub 6736 G=0.7595 A=0.2405, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6600 G=0.8048 A=0.1952, C=0.0000
Allele Frequency Aggregator South Asian Sub 5000 G=0.7760 A=0.2240, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 778 G=0.735 A=0.265, C=0.000
Allele Frequency Aggregator Asian Sub 732 G=0.858 A=0.142, C=0.000
14KJPN JAPANESE Study-wide 28258 G=0.83498 A=0.16502
8.3KJPN JAPANESE Study-wide 16760 G=0.83502 A=0.16498
1000Genomes_30x Global Study-wide 6404 G=0.6338 A=0.3662
1000Genomes_30x African Sub 1786 G=0.2150 A=0.7850
1000Genomes_30x Europe Sub 1266 G=0.7946 A=0.2054
1000Genomes_30x South Asian Sub 1202 G=0.7870 A=0.2130
1000Genomes_30x East Asian Sub 1170 G=0.8368 A=0.1632
1000Genomes_30x American Sub 980 G=0.759 A=0.241
1000Genomes Global Study-wide 5008 G=0.6470 A=0.3530
1000Genomes African Sub 1322 G=0.2224 A=0.7776
1000Genomes East Asian Sub 1008 G=0.8403 A=0.1597
1000Genomes Europe Sub 1006 G=0.8002 A=0.1998
1000Genomes South Asian Sub 978 G=0.791 A=0.209
1000Genomes American Sub 694 G=0.749 A=0.251
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8308 A=0.1692
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8041 A=0.1959
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8064 A=0.1936
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8887 A=0.1113
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.7337 A=0.2663
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.885 A=0.115
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.732 A=0.268
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.746 A=0.254
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.806 A=0.194
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.231 A=0.769
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.880 A=0.120
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.62 A=0.38
HapMap Global Study-wide 1890 G=0.5947 A=0.4053
HapMap American Sub 770 G=0.751 A=0.249
HapMap African Sub 692 G=0.283 A=0.717
HapMap Asian Sub 254 G=0.846 A=0.154
HapMap Europe Sub 174 G=0.776 A=0.224
Korean Genome Project KOREAN Study-wide 1832 G=0.8859 A=0.1141
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.7795 A=0.2205
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.780 A=0.220
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.736 A=0.264
Genome-wide autozygosity in Daghestan Central Asia Sub 120 G=0.883 A=0.117
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.787 A=0.213
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.76 A=0.24
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.64 A=0.36
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.804 A=0.196
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.884 A=0.116
CNV burdens in cranial meningiomas CRM Sub 792 G=0.884 A=0.116
Northern Sweden ACPOP Study-wide 600 G=0.853 A=0.147
SGDP_PRJ Global Study-wide 234 G=0.359 A=0.641
Qatari Global Study-wide 216 G=0.731 A=0.269
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.790 A=0.210
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 56 G=0.89 A=0.11
The Danish reference pan genome Danish Study-wide 40 G=0.75 A=0.25
Siberian Global Study-wide 16 G=0.50 A=0.50
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.53893411G>A
GRCh38.p14 chr 16 NC_000016.10:g.53893411G>C
GRCh37.p13 chr 16 NC_000016.9:g.53927323G>A
GRCh37.p13 chr 16 NC_000016.9:g.53927323G>C
FTO RefSeqGene NG_012969.1:g.194449G>A
FTO RefSeqGene NG_012969.1:g.194449G>C
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.1239+446…

NM_001080432.3:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant 2 NM_001363891.1:c.1269+446…

NM_001363891.1:c.1269+4460G>A

N/A Intron Variant
FTO transcript variant 1 NM_001363894.1:c.1239+446…

NM_001363894.1:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant 4 NM_001363896.1:c.1239+446…

NM_001363896.1:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant 5 NM_001363897.1:c.1161+446…

NM_001363897.1:c.1161+4460G>A

N/A Intron Variant
FTO transcript variant 6 NM_001363898.1:c.1125+446…

NM_001363898.1:c.1125+4460G>A

N/A Intron Variant
FTO transcript variant 7 NM_001363899.1:c.1125+446…

NM_001363899.1:c.1125+4460G>A

N/A Intron Variant
FTO transcript variant 8 NM_001363900.1:c.1095+446…

NM_001363900.1:c.1095+4460G>A

N/A Intron Variant
FTO transcript variant 9 NM_001363901.1:c.1095+446…

NM_001363901.1:c.1095+4460G>A

N/A Intron Variant
FTO transcript variant 10 NM_001363903.1:c.1239+446…

NM_001363903.1:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant 11 NM_001363905.1:c.726+4460…

NM_001363905.1:c.726+4460G>A

N/A Intron Variant
FTO transcript variant 12 NM_001363988.1:c.1239+446…

NM_001363988.1:c.1239+4460G>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.1269+446…

XM_011523314.4:c.1269+4460G>A

N/A Intron Variant
FTO transcript variant X5 XM_011523315.4:c.1269+446…

XM_011523315.4:c.1269+4460G>A

N/A Intron Variant
FTO transcript variant X7 XM_011523316.4:c.1269+446…

XM_011523316.4:c.1269+4460G>A

N/A Intron Variant
FTO transcript variant X1 XM_017023654.3:c.1269+446…

XM_017023654.3:c.1269+4460G>A

N/A Intron Variant
FTO transcript variant X8 XM_017023656.3:c.1239+446…

XM_017023656.3:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant X9 XM_017023657.3:c.1239+446…

XM_017023657.3:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant X11 XM_024450437.2:c.1239+446…

XM_024450437.2:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant X2 XM_047434606.1:c.1269+446…

XM_047434606.1:c.1269+4460G>A

N/A Intron Variant
FTO transcript variant X3 XM_047434607.1:c.1239+446…

XM_047434607.1:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant X6 XM_047434608.1:c.1269+446…

XM_047434608.1:c.1269+4460G>A

N/A Intron Variant
FTO transcript variant X10 XM_047434609.1:c.1239+446…

XM_047434609.1:c.1239+4460G>A

N/A Intron Variant
FTO transcript variant X12 XR_007064911.1:n. N/A Genic Downstream 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.53893411= NC_000016.10:g.53893411G>A NC_000016.10:g.53893411G>C
GRCh37.p13 chr 16 NC_000016.9:g.53927323= NC_000016.9:g.53927323G>A NC_000016.9:g.53927323G>C
FTO RefSeqGene NG_012969.1:g.194449= NG_012969.1:g.194449G>A NG_012969.1:g.194449G>C
FTO transcript variant 3 NM_001080432.2:c.1239+4460= NM_001080432.2:c.1239+4460G>A NM_001080432.2:c.1239+4460G>C
FTO transcript variant 3 NM_001080432.3:c.1239+4460= NM_001080432.3:c.1239+4460G>A NM_001080432.3:c.1239+4460G>C
FTO transcript variant 2 NM_001363891.1:c.1269+4460= NM_001363891.1:c.1269+4460G>A NM_001363891.1:c.1269+4460G>C
FTO transcript variant 1 NM_001363894.1:c.1239+4460= NM_001363894.1:c.1239+4460G>A NM_001363894.1:c.1239+4460G>C
FTO transcript variant 4 NM_001363896.1:c.1239+4460= NM_001363896.1:c.1239+4460G>A NM_001363896.1:c.1239+4460G>C
FTO transcript variant 5 NM_001363897.1:c.1161+4460= NM_001363897.1:c.1161+4460G>A NM_001363897.1:c.1161+4460G>C
FTO transcript variant 6 NM_001363898.1:c.1125+4460= NM_001363898.1:c.1125+4460G>A NM_001363898.1:c.1125+4460G>C
FTO transcript variant 7 NM_001363899.1:c.1125+4460= NM_001363899.1:c.1125+4460G>A NM_001363899.1:c.1125+4460G>C
FTO transcript variant 8 NM_001363900.1:c.1095+4460= NM_001363900.1:c.1095+4460G>A NM_001363900.1:c.1095+4460G>C
FTO transcript variant 9 NM_001363901.1:c.1095+4460= NM_001363901.1:c.1095+4460G>A NM_001363901.1:c.1095+4460G>C
FTO transcript variant 10 NM_001363903.1:c.1239+4460= NM_001363903.1:c.1239+4460G>A NM_001363903.1:c.1239+4460G>C
FTO transcript variant 11 NM_001363905.1:c.726+4460= NM_001363905.1:c.726+4460G>A NM_001363905.1:c.726+4460G>C
FTO transcript variant 12 NM_001363988.1:c.1239+4460= NM_001363988.1:c.1239+4460G>A NM_001363988.1:c.1239+4460G>C
FTO transcript variant X4 XM_011523314.4:c.1269+4460= XM_011523314.4:c.1269+4460G>A XM_011523314.4:c.1269+4460G>C
FTO transcript variant X5 XM_011523315.4:c.1269+4460= XM_011523315.4:c.1269+4460G>A XM_011523315.4:c.1269+4460G>C
FTO transcript variant X7 XM_011523316.4:c.1269+4460= XM_011523316.4:c.1269+4460G>A XM_011523316.4:c.1269+4460G>C
FTO transcript variant X1 XM_017023654.3:c.1269+4460= XM_017023654.3:c.1269+4460G>A XM_017023654.3:c.1269+4460G>C
FTO transcript variant X8 XM_017023656.3:c.1239+4460= XM_017023656.3:c.1239+4460G>A XM_017023656.3:c.1239+4460G>C
FTO transcript variant X9 XM_017023657.3:c.1239+4460= XM_017023657.3:c.1239+4460G>A XM_017023657.3:c.1239+4460G>C
FTO transcript variant X11 XM_024450437.2:c.1239+4460= XM_024450437.2:c.1239+4460G>A XM_024450437.2:c.1239+4460G>C
FTO transcript variant X2 XM_047434606.1:c.1269+4460= XM_047434606.1:c.1269+4460G>A XM_047434606.1:c.1269+4460G>C
FTO transcript variant X3 XM_047434607.1:c.1239+4460= XM_047434607.1:c.1239+4460G>A XM_047434607.1:c.1239+4460G>C
FTO transcript variant X6 XM_047434608.1:c.1269+4460= XM_047434608.1:c.1269+4460G>A XM_047434608.1:c.1269+4460G>C
FTO transcript variant X10 XM_047434609.1:c.1239+4460= XM_047434609.1:c.1239+4460G>A XM_047434609.1:c.1239+4460G>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#.

115 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17562410 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss20021686 Feb 27, 2004 (120)
3 ABI ss43907880 Mar 14, 2006 (126)
4 ILLUMINA ss66918972 Dec 01, 2006 (127)
5 ILLUMINA ss67061520 Dec 01, 2006 (127)
6 ILLUMINA ss68099627 Dec 12, 2006 (127)
7 PERLEGEN ss69344452 May 17, 2007 (127)
8 ILLUMINA ss70516774 May 24, 2008 (130)
9 ILLUMINA ss71045139 May 17, 2007 (127)
10 ILLUMINA ss75449151 Dec 07, 2007 (129)
11 KRIBB_YJKIM ss85062682 Dec 15, 2007 (130)
12 HGSV ss85655574 Dec 15, 2007 (130)
13 BGI ss103295437 Dec 01, 2009 (131)
14 1000GENOMES ss109332221 Jan 24, 2009 (130)
15 1000GENOMES ss115105775 Jan 25, 2009 (130)
16 ILLUMINA-UK ss118256775 Feb 14, 2009 (130)
17 ILLUMINA ss152922569 Dec 01, 2009 (131)
18 ILLUMINA ss159162363 Dec 01, 2009 (131)
19 ILLUMINA ss159954951 Dec 01, 2009 (131)
20 ENSEMBL ss161781985 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss169762037 Jul 04, 2010 (132)
22 ILLUMINA ss170995148 Jul 04, 2010 (132)
23 BUSHMAN ss201708558 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss207552810 Jul 04, 2010 (132)
25 1000GENOMES ss227248230 Jul 14, 2010 (132)
26 1000GENOMES ss237029387 Jul 15, 2010 (132)
27 1000GENOMES ss243367629 Jul 15, 2010 (132)
28 ILLUMINA ss244271429 Jul 04, 2010 (132)
29 GMI ss282536328 May 04, 2012 (137)
30 PJP ss291845532 May 09, 2011 (134)
31 ILLUMINA ss410817298 Sep 17, 2011 (135)
32 ILLUMINA ss479453389 May 04, 2012 (137)
33 ILLUMINA ss479457260 May 04, 2012 (137)
34 ILLUMINA ss479885792 Sep 08, 2015 (146)
35 ILLUMINA ss484526420 May 04, 2012 (137)
36 ILLUMINA ss536670998 Sep 08, 2015 (146)
37 TISHKOFF ss564906967 Apr 25, 2013 (138)
38 SSMP ss660678870 Apr 25, 2013 (138)
39 ILLUMINA ss778751344 Sep 08, 2015 (146)
40 ILLUMINA ss782709826 Sep 08, 2015 (146)
41 ILLUMINA ss783677654 Sep 08, 2015 (146)
42 ILLUMINA ss831961151 Sep 08, 2015 (146)
43 ILLUMINA ss832674940 Jul 13, 2019 (153)
44 ILLUMINA ss834211010 Sep 08, 2015 (146)
45 EVA-GONL ss992501095 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1080631290 Aug 21, 2014 (142)
47 1000GENOMES ss1356296308 Aug 21, 2014 (142)
48 HAMMER_LAB ss1397715670 Sep 08, 2015 (146)
49 EVA_GENOME_DK ss1577918345 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1634448210 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1677442243 Apr 01, 2015 (144)
52 EVA_DECODE ss1696535476 Apr 01, 2015 (144)
53 EVA_SVP ss1713539841 Apr 01, 2015 (144)
54 ILLUMINA ss1752194517 Sep 08, 2015 (146)
55 HAMMER_LAB ss1808518312 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1935937064 Feb 12, 2016 (147)
57 GENOMED ss1968263623 Jul 19, 2016 (147)
58 JJLAB ss2028750687 Sep 14, 2016 (149)
59 USC_VALOUEV ss2157186998 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2212263707 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2628867331 Nov 08, 2017 (151)
62 ILLUMINA ss2633319124 Nov 08, 2017 (151)
63 GRF ss2701710350 Nov 08, 2017 (151)
64 ILLUMINA ss2710833263 Nov 08, 2017 (151)
65 GNOMAD ss2943161227 Nov 08, 2017 (151)
66 SWEGEN ss3014533888 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3028193869 Nov 08, 2017 (151)
68 CSHL ss3351457163 Nov 08, 2017 (151)
69 ILLUMINA ss3627525401 Oct 12, 2018 (152)
70 ILLUMINA ss3631305445 Oct 12, 2018 (152)
71 ILLUMINA ss3633120924 Oct 12, 2018 (152)
72 ILLUMINA ss3633827005 Oct 12, 2018 (152)
73 ILLUMINA ss3634642400 Oct 12, 2018 (152)
74 ILLUMINA ss3635515306 Oct 12, 2018 (152)
75 ILLUMINA ss3636333793 Oct 12, 2018 (152)
76 ILLUMINA ss3637266740 Oct 12, 2018 (152)
77 ILLUMINA ss3638125589 Oct 12, 2018 (152)
78 ILLUMINA ss3639074126 Oct 12, 2018 (152)
79 ILLUMINA ss3639845886 Oct 12, 2018 (152)
80 ILLUMINA ss3640349719 Oct 12, 2018 (152)
81 ILLUMINA ss3641072140 Oct 12, 2018 (152)
82 ILLUMINA ss3641367596 Oct 12, 2018 (152)
83 ILLUMINA ss3643106794 Oct 12, 2018 (152)
84 ILLUMINA ss3643895680 Oct 12, 2018 (152)
85 EGCUT_WGS ss3681509613 Jul 13, 2019 (153)
86 EVA_DECODE ss3699287587 Jul 13, 2019 (153)
87 ACPOP ss3741521369 Jul 13, 2019 (153)
88 ILLUMINA ss3744942818 Jul 13, 2019 (153)
89 EVA ss3753951482 Jul 13, 2019 (153)
90 ILLUMINA ss3772441098 Jul 13, 2019 (153)
91 KHV_HUMAN_GENOMES ss3819240036 Jul 13, 2019 (153)
92 EVA ss3834575600 Apr 27, 2020 (154)
93 EVA ss3840893375 Apr 27, 2020 (154)
94 EVA ss3846385205 Apr 27, 2020 (154)
95 HGDP ss3847545355 Apr 27, 2020 (154)
96 SGDP_PRJ ss3884463650 Apr 27, 2020 (154)
97 KRGDB ss3933952191 Apr 27, 2020 (154)
98 KOGIC ss3977613821 Apr 27, 2020 (154)
99 EVA ss3984713006 Apr 27, 2021 (155)
100 EVA ss3985757230 Apr 27, 2021 (155)
101 TOPMED ss5015844165 Apr 27, 2021 (155)
102 TOMMO_GENOMICS ss5219631449 Apr 27, 2021 (155)
103 1000G_HIGH_COVERAGE ss5301004963 Oct 17, 2022 (156)
104 EVA ss5315838376 Oct 17, 2022 (156)
105 EVA ss5423795389 Oct 17, 2022 (156)
106 HUGCELL_USP ss5494350213 Oct 17, 2022 (156)
107 1000G_HIGH_COVERAGE ss5603676889 Oct 17, 2022 (156)
108 SANFORD_IMAGENETICS ss5658928923 Oct 17, 2022 (156)
109 TOMMO_GENOMICS ss5774658924 Oct 17, 2022 (156)
110 EVA ss5799957945 Oct 17, 2022 (156)
111 YY_MCH ss5815983374 Oct 17, 2022 (156)
112 EVA ss5846426428 Oct 17, 2022 (156)
113 EVA ss5851570548 Oct 17, 2022 (156)
114 EVA ss5899150373 Oct 17, 2022 (156)
115 EVA ss5950320679 Oct 17, 2022 (156)
116 1000Genomes NC_000016.9 - 53927323 Oct 12, 2018 (152)
117 1000Genomes_30x NC_000016.10 - 53893411 Oct 17, 2022 (156)
118 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 53927323 Oct 12, 2018 (152)
119 Genome-wide autozygosity in Daghestan NC_000016.8 - 52484824 Apr 27, 2020 (154)
120 Genetic variation in the Estonian population NC_000016.9 - 53927323 Oct 12, 2018 (152)
121 The Danish reference pan genome NC_000016.9 - 53927323 Apr 27, 2020 (154)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 489956506 (NC_000016.10:53893410:G:A 48432/140002)
Row 489956507 (NC_000016.10:53893410:G:C 1/140046)

- Apr 27, 2021 (155)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 489956506 (NC_000016.10:53893410:G:A 48432/140002)
Row 489956507 (NC_000016.10:53893410:G:C 1/140046)

- Apr 27, 2021 (155)
124 Genome of the Netherlands Release 5 NC_000016.9 - 53927323 Apr 27, 2020 (154)
125 HGDP-CEPH-db Supplement 1 NC_000016.8 - 52484824 Apr 27, 2020 (154)
126 HapMap NC_000016.10 - 53893411 Apr 27, 2020 (154)
127 KOREAN population from KRGDB NC_000016.9 - 53927323 Apr 27, 2020 (154)
128 Korean Genome Project NC_000016.10 - 53893411 Apr 27, 2020 (154)
129 Northern Sweden NC_000016.9 - 53927323 Jul 13, 2019 (153)
130 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 53927323 Apr 27, 2021 (155)
131 CNV burdens in cranial meningiomas NC_000016.9 - 53927323 Apr 27, 2021 (155)
132 Qatari NC_000016.9 - 53927323 Apr 27, 2020 (154)
133 SGDP_PRJ NC_000016.9 - 53927323 Apr 27, 2020 (154)
134 Siberian NC_000016.9 - 53927323 Apr 27, 2020 (154)
135 8.3KJPN NC_000016.9 - 53927323 Apr 27, 2021 (155)
136 14KJPN NC_000016.10 - 53893411 Oct 17, 2022 (156)
137 TopMed NC_000016.10 - 53893411 Apr 27, 2021 (155)
138 UK 10K study - Twins NC_000016.9 - 53927323 Oct 12, 2018 (152)
139 A Vietnamese Genetic Variation Database NC_000016.9 - 53927323 Jul 13, 2019 (153)
140 ALFA NC_000016.10 - 53893411 Apr 27, 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)
rs58811296 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
185671, 223247, ss85655574, ss109332221, ss115105775, ss118256775, ss169762037, ss201708558, ss207552810, ss282536328, ss291845532, ss479453389, ss1397715670, ss1696535476, ss1713539841, ss3639074126, ss3639845886, ss3643106794, ss3643895680, ss3847545355 NC_000016.8:52484823:G:A NC_000016.10:53893410:G:A (self)
69460403, 38527011, 27247861, 4130678, 17180954, 41129585, 14806234, 983157, 262541, 17978986, 36480630, 9703352, 77600756, 38527011, 8547111, ss227248230, ss237029387, ss243367629, ss479457260, ss479885792, ss484526420, ss536670998, ss564906967, ss660678870, ss778751344, ss782709826, ss783677654, ss831961151, ss832674940, ss834211010, ss992501095, ss1080631290, ss1356296308, ss1577918345, ss1634448210, ss1677442243, ss1752194517, ss1808518312, ss1935937064, ss1968263623, ss2028750687, ss2157186998, ss2628867331, ss2633319124, ss2701710350, ss2710833263, ss2943161227, ss3014533888, ss3351457163, ss3627525401, ss3631305445, ss3633120924, ss3633827005, ss3634642400, ss3635515306, ss3636333793, ss3637266740, ss3638125589, ss3640349719, ss3641072140, ss3641367596, ss3681509613, ss3741521369, ss3744942818, ss3753951482, ss3772441098, ss3834575600, ss3840893375, ss3884463650, ss3933952191, ss3984713006, ss3985757230, ss5219631449, ss5315838376, ss5423795389, ss5658928923, ss5799957945, ss5846426428, ss5950320679 NC_000016.9:53927322:G:A NC_000016.10:53893410:G:A (self)
91202824, 1384421, 33991822, 108496028, 231389826, 10046871101, ss2212263707, ss3028193869, ss3699287587, ss3819240036, ss3846385205, ss3977613821, ss5015844165, ss5301004963, ss5494350213, ss5603676889, ss5774658924, ss5815983374, ss5851570548, ss5899150373 NC_000016.10:53893410:G:A NC_000016.10:53893410:G:A (self)
ss17562410, ss20021686 NT_010498.14:2651240:G:A NC_000016.10:53893410:G:A (self)
ss43907880, ss66918972, ss67061520, ss68099627, ss69344452, ss70516774, ss71045139, ss75449151, ss85062682, ss103295437, ss152922569, ss159162363, ss159954951, ss161781985, ss170995148, ss244271429, ss410817298 NT_010498.15:7541521:G:A NC_000016.10:53893410:G:A (self)
10046871101 NC_000016.10:53893410:G:C NC_000016.10:53893410: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.

2 citations for rs11076008
PMID Title Author Year Journal
23944291 Association study between the polymorphisms of the fat mass- and obesity-associated gene with the risk of intervertebral disc degeneration in the Han Chinese population. Wu Z et al. 2013 Genetic testing and molecular biomarkers
24304927 A preliminary association study of fat mass and obesity associated gene polymorphisms and degenerative disc disease in a Chinese Han population. Lao L et al. 2014 The Journal of international medical research
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