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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.

rs12520809

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:135446820 (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 / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.482667 (170668/353594, ALFA)
T=0.386297 (102249/264690, TOPMED)
T=0.489624 (122928/251066, GnomAD_exome) (+ 26 more)
T=0.481978 (58462/121296, ExAC)
T=0.31528 (24704/78356, PAGE_STUDY)
C=0.48284 (13644/28258, 14KJPN)
C=0.48234 (8084/16760, 8.3KJPN)
T=0.40128 (5219/13006, GO-ESP)
T=0.3456 (2213/6404, 1000G_30x)
T=0.3548 (1777/5008, 1000G)
C=0.3507 (1571/4480, Estonian)
C=0.4707 (1814/3854, ALSPAC)
C=0.4666 (1730/3708, TWINSUK)
T=0.4689 (1374/2930, KOREAN)
T=0.4151 (865/2084, HGDP_Stanford)
T=0.3117 (586/1880, HapMap)
T=0.4820 (883/1832, Korea1K)
C=0.478 (477/998, GoNL)
C=0.476 (298/626, Chileans)
T=0.465 (282/606, Vietnamese)
C=0.463 (278/600, NorthernSweden)
T=0.500 (267/534, MGP)
C=0.500 (267/534, MGP)
T=0.284 (122/430, SGDP_PRJ)
C=0.388 (118/304, FINRISK)
T=0.421 (91/216, Qatari)
T=0.38 (22/58, Ancient Sardinia)
T=0.47 (19/40, GENOME_DK)
T=0.27 (8/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DCANP1 : Missense Variant
TIFAB : 3 Prime UTR 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 369486 T=0.512366 C=0.487634, G=0.000000
European Sub 312906 T=0.533767 C=0.466233, G=0.000000
African Sub 14388 T=0.14651 C=0.85349, G=0.00000
African Others Sub 498 T=0.052 C=0.948, G=0.000
African American Sub 13890 T=0.14989 C=0.85011, G=0.00000
Asian Sub 6842 T=0.4453 C=0.5547, G=0.0000
East Asian Sub 4864 T=0.4480 C=0.5520, G=0.0000
Other Asian Sub 1978 T=0.4388 C=0.5612, G=0.0000
Latin American 1 Sub 1456 T=0.3674 C=0.6326, G=0.0000
Latin American 2 Sub 4886 T=0.4820 C=0.5180, G=0.0000
South Asian Sub 5162 T=0.4866 C=0.5134, G=0.0000
Other Sub 23846 T=0.49216 C=0.50784, G=0.00000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 353594 T=0.517333 C=0.482667, G=0.000000
Allele Frequency Aggregator European Sub 303234 T=0.533990 C=0.466010, G=0.000000
Allele Frequency Aggregator Other Sub 22444 T=0.49283 C=0.50717, G=0.00000
Allele Frequency Aggregator African Sub 9570 T=0.1559 C=0.8441, G=0.0000
Allele Frequency Aggregator Asian Sub 6842 T=0.4453 C=0.5547, G=0.0000
Allele Frequency Aggregator South Asian Sub 5162 T=0.4866 C=0.5134, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 4886 T=0.4820 C=0.5180, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1456 T=0.3674 C=0.6326, G=0.0000
TopMed Global Study-wide 264690 T=0.386297 C=0.613703
gnomAD - Exomes Global Study-wide 251066 T=0.489624 C=0.510376
gnomAD - Exomes European Sub 135042 T=0.546578 C=0.453422
gnomAD - Exomes Asian Sub 49006 T=0.45792 C=0.54208
gnomAD - Exomes American Sub 34582 T=0.47533 C=0.52467
gnomAD - Exomes African Sub 16242 T=0.11932 C=0.88068
gnomAD - Exomes Ashkenazi Jewish Sub 10068 T=0.52851 C=0.47149
gnomAD - Exomes Other Sub 6126 T=0.4863 C=0.5137
ExAC Global Study-wide 121296 T=0.481978 C=0.518022
ExAC Europe Sub 73288 T=0.54164 C=0.45836
ExAC Asian Sub 25138 T=0.45950 C=0.54050
ExAC American Sub 11572 T=0.46932 C=0.53068
ExAC African Sub 10392 T=0.12692 C=0.87308
ExAC Other Sub 906 T=0.513 C=0.487
The PAGE Study Global Study-wide 78356 T=0.31528 C=0.68472
The PAGE Study AfricanAmerican Sub 32298 T=0.13889 C=0.86111
The PAGE Study Mexican Sub 10794 T=0.46266 C=0.53734
The PAGE Study Asian Sub 8314 T=0.5262 C=0.4738
The PAGE Study PuertoRican Sub 7862 T=0.3502 C=0.6498
The PAGE Study NativeHawaiian Sub 4532 T=0.4958 C=0.5042
The PAGE Study Cuban Sub 4210 T=0.4259 C=0.5741
The PAGE Study Dominican Sub 3808 T=0.3086 C=0.6914
The PAGE Study CentralAmerican Sub 2442 T=0.4218 C=0.5782
The PAGE Study SouthAmerican Sub 1980 T=0.4273 C=0.5727
The PAGE Study NativeAmerican Sub 1260 T=0.4667 C=0.5333
The PAGE Study SouthAsian Sub 856 T=0.487 C=0.513
14KJPN JAPANESE Study-wide 28258 T=0.51716 C=0.48284
8.3KJPN JAPANESE Study-wide 16760 T=0.51766 C=0.48234
GO Exome Sequencing Project Global Study-wide 13006 T=0.40128 C=0.59872
GO Exome Sequencing Project European American Sub 8600 T=0.5364 C=0.4636
GO Exome Sequencing Project African American Sub 4406 T=0.1375 C=0.8625
1000Genomes_30x Global Study-wide 6404 T=0.3456 C=0.6544
1000Genomes_30x African Sub 1786 T=0.0633 C=0.9367
1000Genomes_30x Europe Sub 1266 T=0.4803 C=0.5197
1000Genomes_30x South Asian Sub 1202 T=0.4700 C=0.5300
1000Genomes_30x East Asian Sub 1170 T=0.4265 C=0.5735
1000Genomes_30x American Sub 980 T=0.437 C=0.563
1000Genomes Global Study-wide 5008 T=0.3548 C=0.6452
1000Genomes African Sub 1322 T=0.0688 C=0.9312
1000Genomes East Asian Sub 1008 T=0.4355 C=0.5645
1000Genomes Europe Sub 1006 T=0.4851 C=0.5149
1000Genomes South Asian Sub 978 T=0.459 C=0.541
1000Genomes American Sub 694 T=0.447 C=0.553
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6493 C=0.3507
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5293 C=0.4707
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5334 C=0.4666
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4689 A=0.0000, C=0.5311, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.4151 C=0.5849
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.413 C=0.587
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.447 C=0.553
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.489 C=0.511
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.525 C=0.475
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.066 C=0.934
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.509 C=0.491
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.29 C=0.71
HapMap Global Study-wide 1880 T=0.3117 C=0.6883
HapMap American Sub 768 T=0.419 C=0.581
HapMap African Sub 682 T=0.097 C=0.903
HapMap Asian Sub 254 T=0.496 C=0.504
HapMap Europe Sub 176 T=0.409 C=0.591
Korean Genome Project KOREAN Study-wide 1832 T=0.4820 C=0.5180
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.522 C=0.478
Chileans Chilean Study-wide 626 T=0.524 C=0.476
A Vietnamese Genetic Variation Database Global Study-wide 606 T=0.465 C=0.535
Northern Sweden ACPOP Study-wide 600 T=0.537 C=0.463
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.500 C=0.500
SGDP_PRJ Global Study-wide 430 T=0.284 C=0.716
FINRISK Finnish from FINRISK project Study-wide 304 T=0.612 C=0.388
Qatari Global Study-wide 216 T=0.421 C=0.579
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 58 T=0.38 C=0.62
The Danish reference pan genome Danish Study-wide 40 T=0.47 C=0.53
Siberian Global Study-wide 30 T=0.27 C=0.73
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 5 NC_000005.10:g.135446820T>A
GRCh38.p14 chr 5 NC_000005.10:g.135446820T>C
GRCh38.p14 chr 5 NC_000005.10:g.135446820T>G
GRCh37.p13 chr 5 NC_000005.9:g.134782510T>A
GRCh37.p13 chr 5 NC_000005.9:g.134782510T>C
GRCh37.p13 chr 5 NC_000005.9:g.134782510T>G
Gene: TIFAB, TIFA inhibitor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TIFAB transcript NM_001099221.2:c.*2634= N/A 3 Prime UTR Variant
Gene: DCANP1, dendritic cell associated nuclear protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DCANP1 transcript NM_130848.3:c.289A>T N [AAT] > Y [TAT] Coding Sequence Variant
dendritic cell nuclear protein 1 NP_570900.1:p.Asn97Tyr N (Asn) > Y (Tyr) Missense Variant
DCANP1 transcript NM_130848.3:c.289A>G N [AAT] > D [GAT] Coding Sequence Variant
dendritic cell nuclear protein 1 NP_570900.1:p.Asn97Asp N (Asn) > D (Asp) Missense Variant
DCANP1 transcript NM_130848.3:c.289A>C N [AAT] > H [CAT] Coding Sequence Variant
dendritic cell nuclear protein 1 NP_570900.1:p.Asn97His N (Asn) > H (His) Missense 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 G
GRCh38.p14 chr 5 NC_000005.10:g.135446820= NC_000005.10:g.135446820T>A NC_000005.10:g.135446820T>C NC_000005.10:g.135446820T>G
GRCh37.p13 chr 5 NC_000005.9:g.134782510= NC_000005.9:g.134782510T>A NC_000005.9:g.134782510T>C NC_000005.9:g.134782510T>G
DCANP1 transcript NM_130848.3:c.289= NM_130848.3:c.289A>T NM_130848.3:c.289A>G NM_130848.3:c.289A>C
DCANP1 transcript NM_130848.2:c.289= NM_130848.2:c.289A>T NM_130848.2:c.289A>G NM_130848.2:c.289A>C
TIFAB transcript NM_001099221.2:c.*2634= NM_001099221.2:c.*2634A>T NM_001099221.2:c.*2634A>G NM_001099221.2:c.*2634A>C
dendritic cell nuclear protein 1 NP_570900.1:p.Asn97= NP_570900.1:p.Asn97Tyr NP_570900.1:p.Asn97Asp NP_570900.1:p.Asn97His
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#.

185 SubSNP, 30 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss19639035 Feb 28, 2004 (120)
2 SSAHASNP ss22283242 Apr 05, 2004 (121)
3 PERLEGEN ss24388190 Sep 20, 2004 (123)
4 ABI ss44660264 Mar 14, 2006 (126)
5 ILLUMINA ss65725537 Oct 14, 2006 (127)
6 AFFY ss66213434 Nov 29, 2006 (127)
7 ILLUMINA ss66540817 Nov 29, 2006 (127)
8 ILLUMINA ss67015674 Nov 29, 2006 (127)
9 ILLUMINA ss67336285 Nov 29, 2006 (127)
10 PERLEGEN ss68950696 May 16, 2007 (127)
11 ILLUMINA ss70411349 May 16, 2007 (127)
12 ILLUMINA ss70572686 May 25, 2008 (130)
13 ILLUMINA ss71113653 May 16, 2007 (127)
14 ILLUMINA ss75805312 Dec 06, 2007 (129)
15 AFFY ss76360090 Dec 08, 2007 (130)
16 HGSV ss80807204 Dec 15, 2007 (130)
17 KRIBB_YJKIM ss85234895 Dec 15, 2007 (130)
18 BCMHGSC_JDW ss93259552 Mar 24, 2008 (129)
19 HUMANGENOME_JCVI ss98650339 Feb 06, 2009 (130)
20 BGI ss104242206 Dec 01, 2009 (131)
21 1000GENOMES ss109438140 Jan 24, 2009 (130)
22 1000GENOMES ss113310708 Jan 25, 2009 (130)
23 ILLUMINA-UK ss116824297 Feb 14, 2009 (130)
24 ILLUMINA ss121574141 Dec 01, 2009 (131)
25 ENSEMBL ss142497094 Dec 01, 2009 (131)
26 ENSEMBL ss143463116 Dec 01, 2009 (131)
27 ILLUMINA ss153220722 Dec 01, 2009 (131)
28 GMI ss156064994 Dec 01, 2009 (131)
29 ILLUMINA ss159221863 Dec 01, 2009 (131)
30 ILLUMINA ss160278793 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss162688149 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss165913642 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss167112904 Jul 04, 2010 (132)
34 ILLUMINA ss170151392 Jul 04, 2010 (132)
35 ILLUMINA ss172134557 Jul 04, 2010 (132)
36 AFFY ss173378982 Jul 04, 2010 (132)
37 BUSHMAN ss200900664 Jul 04, 2010 (132)
38 BCM-HGSC-SUB ss207100999 Jul 04, 2010 (132)
39 1000GENOMES ss221981273 Jul 14, 2010 (132)
40 1000GENOMES ss233160123 Jul 14, 2010 (132)
41 1000GENOMES ss240278697 Jul 15, 2010 (132)
42 BL ss253828076 May 09, 2011 (134)
43 GMI ss278492000 May 04, 2012 (137)
44 GMI ss285267538 Apr 25, 2013 (138)
45 PJP ss293465685 May 09, 2011 (134)
46 NHLBI-ESP ss342188878 May 09, 2011 (134)
47 ILLUMINA ss479761886 May 04, 2012 (137)
48 ILLUMINA ss479767963 May 04, 2012 (137)
49 ILLUMINA ss480331865 Sep 08, 2015 (146)
50 ILLUMINA ss484679286 May 04, 2012 (137)
51 EXOME_CHIP ss491371001 May 04, 2012 (137)
52 CLINSEQ_SNP ss491872565 May 04, 2012 (137)
53 ILLUMINA ss535857089 Sep 08, 2015 (146)
54 TISHKOFF ss558731107 Apr 25, 2013 (138)
55 SSMP ss652630309 Apr 25, 2013 (138)
56 ILLUMINA ss778409366 Aug 21, 2014 (142)
57 ILLUMINA ss780840625 Aug 21, 2014 (142)
58 ILLUMINA ss782786480 Aug 21, 2014 (142)
59 ILLUMINA ss783523900 Aug 21, 2014 (142)
60 ILLUMINA ss783752297 Aug 21, 2014 (142)
61 ILLUMINA ss825380623 Apr 01, 2015 (144)
62 ILLUMINA ss832039142 Apr 01, 2015 (144)
63 ILLUMINA ss832734238 Aug 21, 2014 (142)
64 ILLUMINA ss833325068 Aug 21, 2014 (142)
65 ILLUMINA ss833864623 Aug 21, 2014 (142)
66 JMKIDD_LAB ss974457132 Aug 21, 2014 (142)
67 EVA-GONL ss982153401 Aug 21, 2014 (142)
68 JMKIDD_LAB ss1067471080 Aug 21, 2014 (142)
69 JMKIDD_LAB ss1073063531 Aug 21, 2014 (142)
70 1000GENOMES ss1317331078 Aug 21, 2014 (142)
71 DDI ss1430511203 Apr 01, 2015 (144)
72 EVA_GENOME_DK ss1581362168 Apr 01, 2015 (144)
73 EVA_FINRISK ss1584040828 Apr 01, 2015 (144)
74 EVA_DECODE ss1591681631 Apr 01, 2015 (144)
75 EVA_UK10K_ALSPAC ss1614072659 Apr 01, 2015 (144)
76 EVA_UK10K_TWINSUK ss1657066692 Apr 01, 2015 (144)
77 EVA_EXAC ss1687954399 Apr 01, 2015 (144)
78 EVA_MGP ss1711097987 Apr 01, 2015 (144)
79 EVA_SVP ss1712802168 Apr 01, 2015 (144)
80 ILLUMINA ss1752549607 Sep 08, 2015 (146)
81 ILLUMINA ss1752549608 Sep 08, 2015 (146)
82 HAMMER_LAB ss1804094413 Sep 08, 2015 (146)
83 ILLUMINA ss1917793945 Feb 12, 2016 (147)
84 WEILL_CORNELL_DGM ss1925410210 Feb 12, 2016 (147)
85 ILLUMINA ss1946155672 Feb 12, 2016 (147)
86 ILLUMINA ss1946155673 Feb 12, 2016 (147)
87 ILLUMINA ss1958824535 Feb 12, 2016 (147)
88 ILLUMINA ss1958824537 Feb 12, 2016 (147)
89 GENOMED ss1970214854 Jul 19, 2016 (147)
90 JJLAB ss2023310482 Sep 14, 2016 (149)
91 USC_VALOUEV ss2151467685 Dec 20, 2016 (150)
92 HUMAN_LONGEVITY ss2278392930 Dec 20, 2016 (150)
93 SYSTEMSBIOZJU ss2626143632 Nov 08, 2017 (151)
94 ILLUMINA ss2634343229 Nov 08, 2017 (151)
95 GRF ss2707031637 Nov 08, 2017 (151)
96 GNOMAD ss2735228781 Nov 08, 2017 (151)
97 GNOMAD ss2747452296 Nov 08, 2017 (151)
98 GNOMAD ss2831096466 Nov 08, 2017 (151)
99 AFFY ss2985335373 Nov 08, 2017 (151)
100 SWEGEN ss2997837539 Nov 08, 2017 (151)
101 ILLUMINA ss3022531978 Nov 08, 2017 (151)
102 ILLUMINA ss3022531979 Nov 08, 2017 (151)
103 EVA_SAMSUNG_MC ss3023061402 Nov 08, 2017 (151)
104 BIOINF_KMB_FNS_UNIBA ss3025437905 Nov 08, 2017 (151)
105 CSHL ss3346640817 Nov 08, 2017 (151)
106 ILLUMINA ss3625884056 Oct 12, 2018 (152)
107 ILLUMINA ss3629346818 Oct 12, 2018 (152)
108 ILLUMINA ss3629346819 Oct 12, 2018 (152)
109 ILLUMINA ss3632267108 Oct 12, 2018 (152)
110 ILLUMINA ss3633390730 Oct 12, 2018 (152)
111 ILLUMINA ss3634111958 Oct 12, 2018 (152)
112 ILLUMINA ss3635022964 Oct 12, 2018 (152)
113 ILLUMINA ss3635022965 Oct 12, 2018 (152)
114 ILLUMINA ss3635793684 Oct 12, 2018 (152)
115 ILLUMINA ss3636736583 Oct 12, 2018 (152)
116 ILLUMINA ss3637546326 Oct 12, 2018 (152)
117 ILLUMINA ss3638581902 Oct 12, 2018 (152)
118 ILLUMINA ss3639293678 Oct 12, 2018 (152)
119 ILLUMINA ss3639671082 Oct 12, 2018 (152)
120 ILLUMINA ss3640730259 Oct 12, 2018 (152)
121 ILLUMINA ss3640730260 Oct 12, 2018 (152)
122 ILLUMINA ss3643525753 Oct 12, 2018 (152)
123 ILLUMINA ss3644888675 Oct 12, 2018 (152)
124 ILLUMINA ss3644888676 Oct 12, 2018 (152)
125 OMUKHERJEE_ADBS ss3646324625 Oct 12, 2018 (152)
126 URBANLAB ss3648174988 Oct 12, 2018 (152)
127 ILLUMINA ss3653034004 Oct 12, 2018 (152)
128 ILLUMINA ss3653034005 Oct 12, 2018 (152)
129 ILLUMINA ss3654107372 Oct 12, 2018 (152)
130 EGCUT_WGS ss3665751927 Jul 13, 2019 (153)
131 EVA_DECODE ss3715755933 Jul 13, 2019 (153)
132 ILLUMINA ss3726272532 Jul 13, 2019 (153)
133 ACPOP ss3732841206 Jul 13, 2019 (153)
134 ILLUMINA ss3744260158 Jul 13, 2019 (153)
135 ILLUMINA ss3744539940 Jul 13, 2019 (153)
136 ILLUMINA ss3745323154 Jul 13, 2019 (153)
137 ILLUMINA ss3745323155 Jul 13, 2019 (153)
138 EVA ss3764095622 Jul 13, 2019 (153)
139 PAGE_CC ss3771232654 Jul 13, 2019 (153)
140 ILLUMINA ss3772817173 Jul 13, 2019 (153)
141 ILLUMINA ss3772817174 Jul 13, 2019 (153)
142 KHV_HUMAN_GENOMES ss3807269981 Jul 13, 2019 (153)
143 EVA ss3824112550 Apr 26, 2020 (154)
144 EVA ss3825522653 Apr 26, 2020 (154)
145 EVA ss3825538774 Apr 26, 2020 (154)
146 EVA ss3825680272 Apr 26, 2020 (154)
147 EVA ss3829518607 Apr 26, 2020 (154)
148 EVA ss3838233431 Apr 26, 2020 (154)
149 EVA ss3843676069 Apr 26, 2020 (154)
150 HGDP ss3847807858 Apr 26, 2020 (154)
151 SGDP_PRJ ss3863035996 Apr 26, 2020 (154)
152 KRGDB ss3909681308 Apr 26, 2020 (154)
153 KOGIC ss3957699173 Apr 26, 2020 (154)
154 FSA-LAB ss3984316090 Apr 26, 2021 (155)
155 FSA-LAB ss3984316091 Apr 26, 2021 (155)
156 EVA ss3985171785 Apr 26, 2021 (155)
157 EVA ss3986031481 Apr 26, 2021 (155)
158 EVA ss3986319292 Apr 26, 2021 (155)
159 TOPMED ss4679700441 Apr 26, 2021 (155)
160 TOMMO_GENOMICS ss5174266982 Apr 26, 2021 (155)
161 EVA ss5237015407 Apr 26, 2021 (155)
162 EVA ss5237187099 Apr 26, 2021 (155)
163 1000G_HIGH_COVERAGE ss5265944357 Oct 17, 2022 (156)
164 EVA ss5315088071 Oct 17, 2022 (156)
165 EVA ss5361148122 Oct 17, 2022 (156)
166 HUGCELL_USP ss5463901400 Oct 17, 2022 (156)
167 EVA ss5508225529 Oct 17, 2022 (156)
168 1000G_HIGH_COVERAGE ss5550642844 Oct 17, 2022 (156)
169 EVA ss5623933205 Oct 17, 2022 (156)
170 EVA ss5624150167 Oct 17, 2022 (156)
171 SANFORD_IMAGENETICS ss5624602367 Oct 17, 2022 (156)
172 SANFORD_IMAGENETICS ss5638940635 Oct 17, 2022 (156)
173 TOMMO_GENOMICS ss5711380833 Oct 17, 2022 (156)
174 EVA ss5799662909 Oct 17, 2022 (156)
175 YY_MCH ss5806789733 Oct 17, 2022 (156)
176 EVA ss5835680572 Oct 17, 2022 (156)
177 EVA ss5847275074 Oct 17, 2022 (156)
178 EVA ss5848065064 Oct 17, 2022 (156)
179 EVA ss5848634812 Oct 17, 2022 (156)
180 EVA ss5855029131 Oct 17, 2022 (156)
181 EVA ss5896437150 Oct 17, 2022 (156)
182 EVA ss5967409357 Oct 17, 2022 (156)
183 EVA ss5979755313 Oct 17, 2022 (156)
184 EVA ss5980317973 Oct 17, 2022 (156)
185 EVA ss5981230364 Oct 17, 2022 (156)
186 1000Genomes NC_000005.9 - 134782510 Oct 12, 2018 (152)
187 1000Genomes_30x NC_000005.10 - 135446820 Oct 17, 2022 (156)
188 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 134782510 Oct 12, 2018 (152)
189 Chileans NC_000005.9 - 134782510 Apr 26, 2020 (154)
190 Genetic variation in the Estonian population NC_000005.9 - 134782510 Oct 12, 2018 (152)
191 ExAC NC_000005.9 - 134782510 Oct 12, 2018 (152)
192 FINRISK NC_000005.9 - 134782510 Apr 26, 2020 (154)
193 The Danish reference pan genome NC_000005.9 - 134782510 Apr 26, 2020 (154)
194 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 205201239 (NC_000005.10:135446819:T:C 82840/140054)
Row 205201240 (NC_000005.10:135446819:T:G 3/140096)

- Apr 26, 2021 (155)
195 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 205201239 (NC_000005.10:135446819:T:C 82840/140054)
Row 205201240 (NC_000005.10:135446819:T:G 3/140096)

- Apr 26, 2021 (155)
196 gnomAD - Exomes NC_000005.9 - 134782510 Jul 13, 2019 (153)
197 GO Exome Sequencing Project NC_000005.9 - 134782510 Oct 12, 2018 (152)
198 Genome of the Netherlands Release 5 NC_000005.9 - 134782510 Apr 26, 2020 (154)
199 HGDP-CEPH-db Supplement 1 NC_000005.8 - 134810409 Apr 26, 2020 (154)
200 HapMap NC_000005.10 - 135446820 Apr 26, 2020 (154)
201 KOREAN population from KRGDB NC_000005.9 - 134782510 Apr 26, 2020 (154)
202 Korean Genome Project NC_000005.10 - 135446820 Apr 26, 2020 (154)
203 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 134782510 Apr 26, 2020 (154)
204 Northern Sweden NC_000005.9 - 134782510 Jul 13, 2019 (153)
205 The PAGE Study NC_000005.10 - 135446820 Jul 13, 2019 (153)
206 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 134782510 Apr 26, 2021 (155)
207 Qatari NC_000005.9 - 134782510 Apr 26, 2020 (154)
208 SGDP_PRJ NC_000005.9 - 134782510 Apr 26, 2020 (154)
209 Siberian NC_000005.9 - 134782510 Apr 26, 2020 (154)
210 8.3KJPN NC_000005.9 - 134782510 Apr 26, 2021 (155)
211 14KJPN NC_000005.10 - 135446820 Oct 17, 2022 (156)
212 TopMed NC_000005.10 - 135446820 Apr 26, 2021 (155)
213 UK 10K study - Twins NC_000005.9 - 134782510 Oct 12, 2018 (152)
214 A Vietnamese Genetic Variation Database NC_000005.9 - 134782510 Jul 13, 2019 (153)
215 ALFA NC_000005.10 - 135446820 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)
rs17733329 Oct 08, 2004 (123)
rs56639907 May 25, 2008 (130)
rs60343948 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
16858702, ss3909681308 NC_000005.9:134782509:T:A NC_000005.10:135446819:T:A (self)
485750, ss80807204, ss93259552, ss109438140, ss113310708, ss116824297, ss160278793, ss162688149, ss165913642, ss167112904, ss200900664, ss207100999, ss253828076, ss278492000, ss285267538, ss293465685, ss479761886, ss491872565, ss825380623, ss1591681631, ss1712802168, ss3639293678, ss3639671082, ss3643525753, ss3847807858 NC_000005.8:134810408:T:C NC_000005.10:135446819:T:C (self)
29013694, 16138049, 359270, 11490175, 7958040, 37289, 7527107, 4352523, 570650, 7171676, 16858702, 213747, 6126071, 397712, 7452140, 15052976, 3984039, 32236289, 16138049, 3578883, ss221981273, ss233160123, ss240278697, ss342188878, ss479767963, ss480331865, ss484679286, ss491371001, ss535857089, ss558731107, ss652630309, ss778409366, ss780840625, ss782786480, ss783523900, ss783752297, ss832039142, ss832734238, ss833325068, ss833864623, ss974457132, ss982153401, ss1067471080, ss1073063531, ss1317331078, ss1430511203, ss1581362168, ss1584040828, ss1614072659, ss1657066692, ss1687954399, ss1711097987, ss1752549607, ss1752549608, ss1804094413, ss1917793945, ss1925410210, ss1946155672, ss1946155673, ss1958824535, ss1958824537, ss1970214854, ss2023310482, ss2151467685, ss2626143632, ss2634343229, ss2707031637, ss2735228781, ss2747452296, ss2831096466, ss2985335373, ss2997837539, ss3022531978, ss3022531979, ss3023061402, ss3346640817, ss3625884056, ss3629346818, ss3629346819, ss3632267108, ss3633390730, ss3634111958, ss3635022964, ss3635022965, ss3635793684, ss3636736583, ss3637546326, ss3638581902, ss3640730259, ss3640730260, ss3644888675, ss3644888676, ss3646324625, ss3653034004, ss3653034005, ss3654107372, ss3665751927, ss3732841206, ss3744260158, ss3744539940, ss3745323154, ss3745323155, ss3764095622, ss3772817173, ss3772817174, ss3824112550, ss3825522653, ss3825538774, ss3825680272, ss3829518607, ss3838233431, ss3863035996, ss3909681308, ss3984316090, ss3984316091, ss3985171785, ss3986031481, ss3986319292, ss5174266982, ss5315088071, ss5361148122, ss5508225529, ss5623933205, ss5624150167, ss5624602367, ss5638940635, ss5799662909, ss5835680572, ss5847275074, ss5848065064, ss5848634812, ss5967409357, ss5979755313, ss5980317973, ss5981230364 NC_000005.9:134782509:T:C NC_000005.10:135446819:T:C (self)
38168779, 2973744, 14077174, 454123, 45217937, 517077998, 13758116999, ss2278392930, ss3025437905, ss3648174988, ss3715755933, ss3726272532, ss3771232654, ss3807269981, ss3843676069, ss3957699173, ss4679700441, ss5237015407, ss5237187099, ss5265944357, ss5463901400, ss5550642844, ss5711380833, ss5806789733, ss5855029131, ss5896437150 NC_000005.10:135446819:T:C NC_000005.10:135446819:T:C (self)
ss19639035, ss22283242 NT_034772.5:37197522:T:C NC_000005.10:135446819:T:C (self)
ss24388190, ss44660264, ss65725537, ss66213434, ss66540817, ss67015674, ss67336285, ss68950696, ss70411349, ss70572686, ss71113653, ss75805312, ss76360090, ss85234895, ss98650339, ss104242206, ss121574141, ss142497094, ss143463116, ss153220722, ss156064994, ss159221863, ss170151392, ss172134557, ss173378982 NT_034772.6:43096381:T:C NC_000005.10:135446819:T:C (self)
16858702, ss1067471080, ss3909681308, ss3986319292 NC_000005.9:134782509:T:G NC_000005.10:135446819:T:G (self)
13758116999 NC_000005.10:135446819:T:G NC_000005.10:135446819:T:G (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 rs12520809

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