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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.

rs511744

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:219089 (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=0.297389 (78716/264690, TOPMED)
T=0.300325 (62363/207652, ALFA)
T=0.318717 (54614/171356, GnomAD_exome) (+ 22 more)
T=0.288003 (40313/139974, GnomAD)
T=0.29499 (13083/44350, ExAC)
T=0.49593 (14014/28258, 14KJPN)
T=0.49791 (8344/16758, 8.3KJPN)
T=0.27803 (3605/12966, GO-ESP)
T=0.3192 (2044/6404, 1000G_30x)
T=0.3253 (1629/5008, 1000G)
T=0.2496 (1118/4480, Estonian)
T=0.2976 (1147/3854, ALSPAC)
T=0.2994 (1110/3708, TWINSUK)
C=0.4365 (1279/2930, KOREAN)
T=0.3656 (762/2084, HGDP_Stanford)
T=0.3169 (599/1890, HapMap)
T=0.291 (290/998, GoNL)
T=0.300 (180/600, NorthernSweden)
C=0.088 (47/534, MGP)
T=0.246 (118/480, SGDP_PRJ)
T=0.440 (95/216, Qatari)
C=0.458 (97/212, Vietnamese)
T=0.47 (40/86, Ancient Sardinia)
T=0.27 (13/48, Siberian)
T=0.25 (10/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SIRT3 : Non Coding Transcript Variant
Publications
5 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 207652 T=0.300325 C=0.699675
European Sub 174862 T=0.299671 C=0.700329
African Sub 10308 T=0.24660 C=0.75340
African Others Sub 356 T=0.239 C=0.761
African American Sub 9952 T=0.2469 C=0.7531
Asian Sub 758 T=0.511 C=0.489
East Asian Sub 582 T=0.529 C=0.471
Other Asian Sub 176 T=0.449 C=0.551
Latin American 1 Sub 842 T=0.306 C=0.694
Latin American 2 Sub 6888 T=0.3693 C=0.6307
South Asian Sub 5038 T=0.2819 C=0.7181
Other Sub 8956 T=0.3139 C=0.6861


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=0.297389 C=0.702611
Allele Frequency Aggregator Total Global 207652 T=0.300325 C=0.699675
Allele Frequency Aggregator European Sub 174862 T=0.299671 C=0.700329
Allele Frequency Aggregator African Sub 10308 T=0.24660 C=0.75340
Allele Frequency Aggregator Other Sub 8956 T=0.3139 C=0.6861
Allele Frequency Aggregator Latin American 2 Sub 6888 T=0.3693 C=0.6307
Allele Frequency Aggregator South Asian Sub 5038 T=0.2819 C=0.7181
Allele Frequency Aggregator Latin American 1 Sub 842 T=0.306 C=0.694
Allele Frequency Aggregator Asian Sub 758 T=0.511 C=0.489
gnomAD - Exomes Global Study-wide 171356 T=0.318717 C=0.681283
gnomAD - Exomes European Sub 86500 T=0.28675 C=0.71325
gnomAD - Exomes Asian Sub 35960 T=0.37208 C=0.62792
gnomAD - Exomes American Sub 26236 T=0.37407 C=0.62593
gnomAD - Exomes African Sub 10170 T=0.24730 C=0.75270
gnomAD - Exomes Ashkenazi Jewish Sub 7868 T=0.3341 C=0.6659
gnomAD - Exomes Other Sub 4622 T=0.3185 C=0.6815
gnomAD - Genomes Global Study-wide 139974 T=0.288003 C=0.711997
gnomAD - Genomes European Sub 75850 T=0.28864 C=0.71136
gnomAD - Genomes African Sub 41916 T=0.24427 C=0.75573
gnomAD - Genomes American Sub 13626 T=0.34273 C=0.65727
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.3526 C=0.6474
gnomAD - Genomes East Asian Sub 3108 T=0.5354 C=0.4646
gnomAD - Genomes Other Sub 2150 T=0.3140 C=0.6860
ExAC Global Study-wide 44350 T=0.29499 C=0.70501
ExAC Europe Sub 26432 T=0.28322 C=0.71678
ExAC Asian Sub 10662 T=0.33136 C=0.66864
ExAC African Sub 4306 T=0.2492 C=0.7508
ExAC American Sub 2616 T=0.3349 C=0.6651
ExAC Other Sub 334 T=0.344 C=0.656
14KJPN JAPANESE Study-wide 28258 T=0.49593 C=0.50407
8.3KJPN JAPANESE Study-wide 16758 T=0.49791 C=0.50209
GO Exome Sequencing Project Global Study-wide 12966 T=0.27803 C=0.72197
GO Exome Sequencing Project European American Sub 8574 T=0.2945 C=0.7055
GO Exome Sequencing Project African American Sub 4392 T=0.2459 C=0.7541
1000Genomes_30x Global Study-wide 6404 T=0.3192 C=0.6808
1000Genomes_30x African Sub 1786 T=0.2340 C=0.7660
1000Genomes_30x Europe Sub 1266 T=0.2907 C=0.7093
1000Genomes_30x South Asian Sub 1202 T=0.2596 C=0.7404
1000Genomes_30x East Asian Sub 1170 T=0.5393 C=0.4607
1000Genomes_30x American Sub 980 T=0.321 C=0.679
1000Genomes Global Study-wide 5008 T=0.3253 C=0.6747
1000Genomes African Sub 1322 T=0.2254 C=0.7746
1000Genomes East Asian Sub 1008 T=0.5387 C=0.4613
1000Genomes Europe Sub 1006 T=0.2962 C=0.7038
1000Genomes South Asian Sub 978 T=0.264 C=0.736
1000Genomes American Sub 694 T=0.334 C=0.666
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.2496 C=0.7504
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.2976 C=0.7024
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.2994 C=0.7006
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5635 A=0.0000, C=0.4365
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.3656 C=0.6344
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.485 C=0.515
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.343 C=0.657
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.371 C=0.629
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.294 C=0.706
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.252 C=0.748
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.324 C=0.676
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.51 C=0.49
HapMap Global Study-wide 1890 T=0.3169 C=0.6831
HapMap American Sub 768 T=0.350 C=0.650
HapMap African Sub 692 T=0.207 C=0.793
HapMap Asian Sub 254 T=0.516 C=0.484
HapMap Europe Sub 176 T=0.318 C=0.682
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.291 C=0.709
Northern Sweden ACPOP Study-wide 600 T=0.300 C=0.700
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.912 C=0.088
SGDP_PRJ Global Study-wide 480 T=0.246 C=0.754
Qatari Global Study-wide 216 T=0.440 C=0.560
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.542 C=0.458
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 T=0.47 C=0.53
Siberian Global Study-wide 48 T=0.27 C=0.73
The Danish reference pan genome Danish Study-wide 40 T=0.25 C=0.75
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 11 NC_000011.10:g.219089T>A
GRCh38.p14 chr 11 NC_000011.10:g.219089T>C
GRCh37.p13 chr 11 NC_000011.9:g.219089T>A
GRCh37.p13 chr 11 NC_000011.9:g.219089T>C
Gene: SIRT3, sirtuin 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SIRT3 transcript variant 2 NM_001017524.3:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant 3 NM_001370310.1:c.970-48A>T N/A Intron Variant
SIRT3 transcript variant 4 NM_001370312.1:c.778-48A>T N/A Intron Variant
SIRT3 transcript variant 5 NM_001370314.1:c.808-48A>T N/A Intron Variant
SIRT3 transcript variant 6 NM_001370315.1:c.727-48A>T N/A Intron Variant
SIRT3 transcript variant 7 NM_001370316.1:c.298-48A>T N/A Intron Variant
SIRT3 transcript variant 8 NM_001370317.1:c.154-48A>T N/A Intron Variant
SIRT3 transcript variant 9 NM_001370318.1:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant 10 NM_001370319.1:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant 11 NM_001370320.1:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant 12 NM_001370321.1:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant 13 NM_001370322.1:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant 14 NM_001370323.1:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant 15 NM_001370324.1:c.544-2371…

NM_001370324.1:c.544-2371A>T

N/A Intron Variant
SIRT3 transcript variant 16 NM_001370325.1:c.544-2371…

NM_001370325.1:c.544-2371A>T

N/A Intron Variant
SIRT3 transcript variant 1 NM_012239.6:c.970-48A>T N/A Intron Variant
SIRT3 transcript variant 33 NR_163402.1:n.1495A>T N/A Non Coding Transcript Variant
SIRT3 transcript variant 33 NR_163402.1:n.1495A>G N/A Non Coding Transcript Variant
SIRT3 transcript variant 22 NR_163391.1:n.1253A>T N/A Non Coding Transcript Variant
SIRT3 transcript variant 22 NR_163391.1:n.1253A>G N/A Non Coding Transcript Variant
SIRT3 transcript variant 17 NR_163386.1:n. N/A Intron Variant
SIRT3 transcript variant 18 NR_163387.1:n. N/A Intron Variant
SIRT3 transcript variant 19 NR_163388.1:n. N/A Intron Variant
SIRT3 transcript variant 20 NR_163389.1:n. N/A Intron Variant
SIRT3 transcript variant 21 NR_163390.1:n. N/A Intron Variant
SIRT3 transcript variant 23 NR_163392.1:n. N/A Intron Variant
SIRT3 transcript variant 24 NR_163393.1:n. N/A Intron Variant
SIRT3 transcript variant 25 NR_163394.1:n. N/A Intron Variant
SIRT3 transcript variant 26 NR_163395.1:n. N/A Intron Variant
SIRT3 transcript variant 27 NR_163396.1:n. N/A Intron Variant
SIRT3 transcript variant 28 NR_163397.1:n. N/A Intron Variant
SIRT3 transcript variant 29 NR_163398.1:n. N/A Intron Variant
SIRT3 transcript variant 30 NR_163399.1:n. N/A Intron Variant
SIRT3 transcript variant 31 NR_163400.1:n. N/A Intron Variant
SIRT3 transcript variant 32 NR_163401.1:n. N/A Intron Variant
SIRT3 transcript variant X3 XM_011519956.3:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant X2 XM_011519957.3:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant X4 XM_017017431.2:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant X5 XM_047426677.1:c.544-48A>T N/A Intron Variant
SIRT3 transcript variant X1 XR_007062467.1: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 T= A C
GRCh38.p14 chr 11 NC_000011.10:g.219089= NC_000011.10:g.219089T>A NC_000011.10:g.219089T>C
GRCh37.p13 chr 11 NC_000011.9:g.219089= NC_000011.9:g.219089T>A NC_000011.9:g.219089T>C
SIRT3 transcript variant 33 NR_163402.1:n.1495= NR_163402.1:n.1495A>T NR_163402.1:n.1495A>G
SIRT3 transcript variant 22 NR_163391.1:n.1253= NR_163391.1:n.1253A>T NR_163391.1:n.1253A>G
SIRT3 transcript variant 2 NM_001017524.2:c.544-48= NM_001017524.2:c.544-48A>T NM_001017524.2:c.544-48A>G
SIRT3 transcript variant 2 NM_001017524.3:c.544-48= NM_001017524.3:c.544-48A>T NM_001017524.3:c.544-48A>G
SIRT3 transcript variant 3 NM_001370310.1:c.970-48= NM_001370310.1:c.970-48A>T NM_001370310.1:c.970-48A>G
SIRT3 transcript variant 4 NM_001370312.1:c.778-48= NM_001370312.1:c.778-48A>T NM_001370312.1:c.778-48A>G
SIRT3 transcript variant 5 NM_001370314.1:c.808-48= NM_001370314.1:c.808-48A>T NM_001370314.1:c.808-48A>G
SIRT3 transcript variant 6 NM_001370315.1:c.727-48= NM_001370315.1:c.727-48A>T NM_001370315.1:c.727-48A>G
SIRT3 transcript variant 7 NM_001370316.1:c.298-48= NM_001370316.1:c.298-48A>T NM_001370316.1:c.298-48A>G
SIRT3 transcript variant 8 NM_001370317.1:c.154-48= NM_001370317.1:c.154-48A>T NM_001370317.1:c.154-48A>G
SIRT3 transcript variant 9 NM_001370318.1:c.544-48= NM_001370318.1:c.544-48A>T NM_001370318.1:c.544-48A>G
SIRT3 transcript variant 10 NM_001370319.1:c.544-48= NM_001370319.1:c.544-48A>T NM_001370319.1:c.544-48A>G
SIRT3 transcript variant 11 NM_001370320.1:c.544-48= NM_001370320.1:c.544-48A>T NM_001370320.1:c.544-48A>G
SIRT3 transcript variant 12 NM_001370321.1:c.544-48= NM_001370321.1:c.544-48A>T NM_001370321.1:c.544-48A>G
SIRT3 transcript variant 13 NM_001370322.1:c.544-48= NM_001370322.1:c.544-48A>T NM_001370322.1:c.544-48A>G
SIRT3 transcript variant 14 NM_001370323.1:c.544-48= NM_001370323.1:c.544-48A>T NM_001370323.1:c.544-48A>G
SIRT3 transcript variant 15 NM_001370324.1:c.544-2371= NM_001370324.1:c.544-2371A>T NM_001370324.1:c.544-2371A>G
SIRT3 transcript variant 16 NM_001370325.1:c.544-2371= NM_001370325.1:c.544-2371A>T NM_001370325.1:c.544-2371A>G
SIRT3 transcript variant 1 NM_012239.5:c.970-48= NM_012239.5:c.970-48A>T NM_012239.5:c.970-48A>G
SIRT3 transcript variant 1 NM_012239.6:c.970-48= NM_012239.6:c.970-48A>T NM_012239.6:c.970-48A>G
SIRT3 transcript variant X1 XM_005252835.1:c.970-48= XM_005252835.1:c.970-48A>T XM_005252835.1:c.970-48A>G
SIRT3 transcript variant X2 XM_005252836.1:c.778-48= XM_005252836.1:c.778-48A>T XM_005252836.1:c.778-48A>G
SIRT3 transcript variant X3 XM_005252837.1:c.808-48= XM_005252837.1:c.808-48A>T XM_005252837.1:c.808-48A>G
SIRT3 transcript variant X4 XM_005252838.1:c.727-48= XM_005252838.1:c.727-48A>T XM_005252838.1:c.727-48A>G
SIRT3 transcript variant X3 XM_011519956.3:c.544-48= XM_011519956.3:c.544-48A>T XM_011519956.3:c.544-48A>G
SIRT3 transcript variant X2 XM_011519957.3:c.544-48= XM_011519957.3:c.544-48A>T XM_011519957.3:c.544-48A>G
SIRT3 transcript variant X4 XM_017017431.2:c.544-48= XM_017017431.2:c.544-48A>T XM_017017431.2:c.544-48A>G
SIRT3 transcript variant X5 XM_047426677.1:c.544-48= XM_047426677.1:c.544-48A>T XM_047426677.1:c.544-48A>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#.

148 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss681917 Aug 11, 2000 (83)
2 BCM_SSAHASNP ss10652235 Jul 11, 2003 (116)
3 WI_SSAHASNP ss12124810 Jul 11, 2003 (116)
4 SC_SNP ss15917808 Feb 27, 2004 (120)
5 SSAHASNP ss20753186 Apr 05, 2004 (121)
6 PERLEGEN ss24117268 Sep 20, 2004 (123)
7 ILLUMINA ss65760807 Oct 15, 2006 (127)
8 ILLUMINA ss66813598 Nov 30, 2006 (127)
9 ILLUMINA ss67411620 Nov 30, 2006 (127)
10 ILLUMINA ss67776346 Nov 30, 2006 (127)
11 ILLUMINA ss70842598 May 24, 2008 (130)
12 ILLUMINA ss71426718 May 17, 2007 (127)
13 ILLUMINA ss75818530 Dec 06, 2007 (129)
14 HGSV ss78521252 Dec 06, 2007 (129)
15 ILLUMINA ss79206674 Dec 14, 2007 (130)
16 HGSV ss81102270 Dec 14, 2007 (130)
17 KRIBB_YJKIM ss83470927 Dec 14, 2007 (130)
18 HGSV ss84214935 Dec 14, 2007 (130)
19 BCMHGSC_JDW ss88423280 Mar 23, 2008 (129)
20 1000GENOMES ss109897620 Jan 24, 2009 (130)
21 1000GENOMES ss114073212 Jan 25, 2009 (130)
22 ILLUMINA-UK ss118437450 Feb 14, 2009 (130)
23 ILLUMINA ss122455889 Dec 01, 2009 (131)
24 ENSEMBL ss132221273 Dec 01, 2009 (131)
25 ENSEMBL ss137782664 Dec 01, 2009 (131)
26 ILLUMINA ss154336075 Dec 01, 2009 (131)
27 GMI ss155795784 Dec 01, 2009 (131)
28 ILLUMINA ss159512667 Dec 01, 2009 (131)
29 ILLUMINA ss160738339 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss167614218 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss168823752 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss170212153 Jul 04, 2010 (132)
33 ILLUMINA ss172014518 Jul 04, 2010 (132)
34 ILLUMINA ss173909871 Jul 04, 2010 (132)
35 BUSHMAN ss202252856 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss207860829 Jul 04, 2010 (132)
37 1000GENOMES ss225042584 Jul 14, 2010 (132)
38 1000GENOMES ss235408496 Jul 15, 2010 (132)
39 1000GENOMES ss242070839 Jul 15, 2010 (132)
40 BL ss254804211 May 09, 2011 (134)
41 GMI ss280846457 May 04, 2012 (137)
42 GMI ss286297543 Apr 25, 2013 (138)
43 PJP ss291028268 May 09, 2011 (134)
44 ILLUMINA ss481133159 May 04, 2012 (137)
45 ILLUMINA ss481155241 May 04, 2012 (137)
46 ILLUMINA ss482144687 Sep 08, 2015 (146)
47 ILLUMINA ss485361628 May 04, 2012 (137)
48 1000GENOMES ss491008428 May 04, 2012 (137)
49 GSK-GENETICS ss491240200 May 04, 2012 (137)
50 ILLUMINA ss537305789 Sep 08, 2015 (146)
51 TISHKOFF ss562325749 Apr 25, 2013 (138)
52 SSMP ss657640387 Apr 25, 2013 (138)
53 NHLBI-ESP ss712984096 Apr 25, 2013 (138)
54 ILLUMINA ss778556455 Sep 08, 2015 (146)
55 ILLUMINA ss783126495 Sep 08, 2015 (146)
56 ILLUMINA ss784083096 Sep 08, 2015 (146)
57 ILLUMINA ss825537192 Apr 01, 2015 (144)
58 ILLUMINA ss832385341 Sep 08, 2015 (146)
59 ILLUMINA ss833023971 Jul 13, 2019 (153)
60 ILLUMINA ss834013260 Sep 08, 2015 (146)
61 EVA-GONL ss988111695 Aug 21, 2014 (142)
62 JMKIDD_LAB ss1077435712 Aug 21, 2014 (142)
63 1000GENOMES ss1339765137 Aug 21, 2014 (142)
64 DDI ss1426502764 Apr 01, 2015 (144)
65 EVA_GENOME_DK ss1575465206 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1625814919 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1668808952 Apr 01, 2015 (144)
68 EVA_EXAC ss1690156166 Apr 01, 2015 (144)
69 EVA_MGP ss1711276239 Apr 01, 2015 (144)
70 EVA_SVP ss1713226315 Apr 01, 2015 (144)
71 ILLUMINA ss1752009792 Sep 08, 2015 (146)
72 HAMMER_LAB ss1806651661 Sep 08, 2015 (146)
73 WEILL_CORNELL_DGM ss1931471756 Feb 12, 2016 (147)
74 GENOMED ss1967269497 Jul 19, 2016 (147)
75 JJLAB ss2026476467 Sep 14, 2016 (149)
76 USC_VALOUEV ss2154760704 Dec 20, 2016 (150)
77 HUMAN_LONGEVITY ss2179517036 Dec 20, 2016 (150)
78 SYSTEMSBIOZJU ss2627707395 Nov 08, 2017 (151)
79 ILLUMINA ss2632788602 Nov 08, 2017 (151)
80 GRF ss2699027522 Nov 08, 2017 (151)
81 GNOMAD ss2738643218 Nov 08, 2017 (151)
82 GNOMAD ss2748509814 Nov 08, 2017 (151)
83 GNOMAD ss2895338274 Nov 08, 2017 (151)
84 SWEGEN ss3007442793 Nov 08, 2017 (151)
85 BIOINF_KMB_FNS_UNIBA ss3027030334 Nov 08, 2017 (151)
86 CSHL ss3349403798 Nov 08, 2017 (151)
87 ILLUMINA ss3626577884 Oct 12, 2018 (152)
88 ILLUMINA ss3630809198 Oct 12, 2018 (152)
89 ILLUMINA ss3632971976 Oct 12, 2018 (152)
90 ILLUMINA ss3633670310 Oct 12, 2018 (152)
91 ILLUMINA ss3634433735 Oct 12, 2018 (152)
92 ILLUMINA ss3635362292 Oct 12, 2018 (152)
93 ILLUMINA ss3636119007 Oct 12, 2018 (152)
94 ILLUMINA ss3637113067 Oct 12, 2018 (152)
95 ILLUMINA ss3637884997 Oct 12, 2018 (152)
96 ILLUMINA ss3638957951 Oct 12, 2018 (152)
97 ILLUMINA ss3639479339 Oct 12, 2018 (152)
98 ILLUMINA ss3640141076 Oct 12, 2018 (152)
99 ILLUMINA ss3642885349 Oct 12, 2018 (152)
100 OMUKHERJEE_ADBS ss3646418559 Oct 12, 2018 (152)
101 URBANLAB ss3649509423 Oct 12, 2018 (152)
102 EGCUT_WGS ss3674852846 Jul 13, 2019 (153)
103 EVA_DECODE ss3691039614 Jul 13, 2019 (153)
104 ACPOP ss3737838386 Jul 13, 2019 (153)
105 ILLUMINA ss3744734675 Jul 13, 2019 (153)
106 EVA ss3748832400 Jul 13, 2019 (153)
107 ILLUMINA ss3772234875 Jul 13, 2019 (153)
108 PACBIO ss3786837607 Jul 13, 2019 (153)
109 PACBIO ss3791994143 Jul 13, 2019 (153)
110 PACBIO ss3796876327 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3814182483 Jul 13, 2019 (153)
112 EVA ss3824571996 Apr 26, 2020 (154)
113 EVA ss3832427724 Apr 26, 2020 (154)
114 EVA ss3839756361 Apr 26, 2020 (154)
115 EVA ss3845232042 Apr 26, 2020 (154)
116 HGDP ss3847406250 Apr 26, 2020 (154)
117 SGDP_PRJ ss3875443000 Apr 26, 2020 (154)
118 KRGDB ss3923655042 Apr 26, 2020 (154)
119 FSA-LAB ss3983990827 Apr 26, 2021 (155)
120 EVA ss3985512609 Apr 26, 2021 (155)
121 EVA ss3986506234 Apr 26, 2021 (155)
122 EVA ss4017518155 Apr 26, 2021 (155)
123 TOPMED ss4872332924 Apr 26, 2021 (155)
124 TOMMO_GENOMICS ss5200276523 Apr 26, 2021 (155)
125 EVA ss5237211667 Apr 26, 2021 (155)
126 EVA ss5237487690 Apr 26, 2021 (155)
127 1000G_HIGH_COVERAGE ss5286090167 Oct 16, 2022 (156)
128 EVA ss5315519092 Oct 16, 2022 (156)
129 EVA ss5397184337 Oct 16, 2022 (156)
130 HUGCELL_USP ss5481443946 Oct 16, 2022 (156)
131 1000G_HIGH_COVERAGE ss5581067142 Oct 16, 2022 (156)
132 EVA ss5623951315 Oct 16, 2022 (156)
133 EVA ss5624015004 Oct 16, 2022 (156)
134 SANFORD_IMAGENETICS ss5650452776 Oct 16, 2022 (156)
135 TOMMO_GENOMICS ss5746910068 Oct 16, 2022 (156)
136 EVA ss5799831383 Oct 16, 2022 (156)
137 EVA ss5800062540 Oct 16, 2022 (156)
138 EVA ss5800164121 Oct 16, 2022 (156)
139 YY_MCH ss5812046453 Oct 16, 2022 (156)
140 EVA ss5836134230 Oct 16, 2022 (156)
141 EVA ss5848312635 Oct 16, 2022 (156)
142 EVA ss5849820847 Oct 16, 2022 (156)
143 EVA ss5918489968 Oct 16, 2022 (156)
144 EVA ss5941763587 Oct 16, 2022 (156)
145 EVA ss5979259246 Oct 16, 2022 (156)
146 EVA ss5979345547 Oct 16, 2022 (156)
147 EVA ss5980651819 Oct 16, 2022 (156)
148 EVA ss5981264265 Oct 16, 2022 (156)
149 1000Genomes NC_000011.9 - 219089 Oct 12, 2018 (152)
150 1000Genomes_30x NC_000011.10 - 219089 Oct 16, 2022 (156)
151 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 219089 Oct 12, 2018 (152)
152 Genetic variation in the Estonian population NC_000011.9 - 219089 Oct 12, 2018 (152)
153 ExAC NC_000011.9 - 219089 Oct 12, 2018 (152)
154 The Danish reference pan genome NC_000011.9 - 219089 Apr 26, 2020 (154)
155 gnomAD - Genomes NC_000011.10 - 219089 Apr 26, 2021 (155)
156 gnomAD - Exomes NC_000011.9 - 219089 Jul 13, 2019 (153)
157 GO Exome Sequencing Project NC_000011.9 - 219089 Oct 12, 2018 (152)
158 Genome of the Netherlands Release 5 NC_000011.9 - 219089 Apr 26, 2020 (154)
159 HGDP-CEPH-db Supplement 1 NC_000011.8 - 209089 Apr 26, 2020 (154)
160 HapMap NC_000011.10 - 219089 Apr 26, 2020 (154)
161 KOREAN population from KRGDB NC_000011.9 - 219089 Apr 26, 2020 (154)
162 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 219089 Apr 26, 2020 (154)
163 Northern Sweden NC_000011.9 - 219089 Jul 13, 2019 (153)
164 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 219089 Apr 26, 2021 (155)
165 Qatari NC_000011.9 - 219089 Apr 26, 2020 (154)
166 SGDP_PRJ NC_000011.9 - 219089 Apr 26, 2020 (154)
167 Siberian NC_000011.9 - 219089 Apr 26, 2020 (154)
168 8.3KJPN NC_000011.9 - 219089 Apr 26, 2021 (155)
169 14KJPN NC_000011.10 - 219089 Oct 16, 2022 (156)
170 TopMed NC_000011.10 - 219089 Apr 26, 2021 (155)
171 UK 10K study - Twins NC_000011.9 - 219089 Oct 12, 2018 (152)
172 A Vietnamese Genetic Variation Database NC_000011.9 - 219089 Jul 13, 2019 (153)
173 ALFA NC_000011.10 - 219089 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)
rs57938295 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
30832436, ss3923655042 NC_000011.9:219088:T:A NC_000011.10:219088:T:A (self)
84142, ss78521252, ss81102270, ss84214935, ss88423280, ss109897620, ss114073212, ss118437450, ss167614218, ss168823752, ss170212153, ss202252856, ss207860829, ss254804211, ss280846457, ss286297543, ss291028268, ss481133159, ss491240200, ss825537192, ss1713226315, ss3638957951, ss3639479339, ss3642885349, ss3847406250 NC_000011.8:209088:T:C NC_000011.10:219088:T:C (self)
52236035, 29024188, 20591094, 396457, 2402810, 7848328, 1029658, 12937104, 30832436, 391999, 11123251, 738536, 13513686, 27459980, 7277058, 58245830, 29024188, 6442132, ss225042584, ss235408496, ss242070839, ss481155241, ss482144687, ss485361628, ss491008428, ss537305789, ss562325749, ss657640387, ss712984096, ss778556455, ss783126495, ss784083096, ss832385341, ss833023971, ss834013260, ss988111695, ss1077435712, ss1339765137, ss1426502764, ss1575465206, ss1625814919, ss1668808952, ss1690156166, ss1711276239, ss1752009792, ss1806651661, ss1931471756, ss1967269497, ss2026476467, ss2154760704, ss2627707395, ss2632788602, ss2699027522, ss2738643218, ss2748509814, ss2895338274, ss3007442793, ss3349403798, ss3626577884, ss3630809198, ss3632971976, ss3633670310, ss3634433735, ss3635362292, ss3636119007, ss3637113067, ss3637884997, ss3640141076, ss3646418559, ss3674852846, ss3737838386, ss3744734675, ss3748832400, ss3772234875, ss3786837607, ss3791994143, ss3796876327, ss3824571996, ss3832427724, ss3839756361, ss3875443000, ss3923655042, ss3983990827, ss3985512609, ss3986506234, ss4017518155, ss5200276523, ss5237487690, ss5315519092, ss5397184337, ss5623951315, ss5624015004, ss5650452776, ss5799831383, ss5800062540, ss5800164121, ss5836134230, ss5848312635, ss5941763587, ss5979345547, ss5980651819, ss5981264265 NC_000011.9:219088:T:C NC_000011.10:219088:T:C (self)
68593077, 368914657, 531082, 80747172, 87878580, 11708926998, ss2179517036, ss3027030334, ss3649509423, ss3691039614, ss3814182483, ss3845232042, ss4872332924, ss5237211667, ss5286090167, ss5481443946, ss5581067142, ss5746910068, ss5812046453, ss5849820847, ss5918489968, ss5979259246 NC_000011.10:219088:T:C NC_000011.10:219088:T:C (self)
ss681917, ss24117268, ss65760807, ss66813598, ss67411620, ss67776346, ss70842598, ss71426718, ss75818530, ss79206674, ss83470927, ss122455889, ss132221273, ss137782664, ss154336075, ss155795784, ss159512667, ss160738339, ss172014518, ss173909871 NT_009237.18:159088:T:C NC_000011.10:219088:T:C (self)
ss10652235, ss12124810 NT_035113.4:929775:A:G NC_000011.10:219088:T:C (self)
ss15917808, ss20753186 NT_035113.5:159088:T:C NC_000011.10:219088: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.

5 citations for rs511744
PMID Title Author Year Journal
19367319 Human longevity and 11p15.5: a study in 1321 centenarians. Lescai F et al. 2009 European journal of human genetics
21331741 Association between single nucleotide polymorphisms within genes encoding sirtuin families and diabetic nephropathy in Japanese subjects with type 2 diabetes. Maeda S et al. 2011 Clinical and experimental nephrology
21537393 The molecular genetics of sirtuins: association with human longevity and age-related diseases. Polito L et al. 2010 International journal of molecular epidemiology and genetics
25541994 SIRT6 minor allele genotype is associated with >5-year decrease in lifespan in an aged cohort. TenNapel MJ et al. 2014 PloS one
32462533 The dominant model analysis of Sirt3 genetic variants is associated with susceptibility to tuberculosis in a Chinese Han population. Wu T et al. 2020 Molecular genetics and genomics
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