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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.

rs7993214

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:39776775 (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
T=0.332295 (111152/334498, ALFA)
T=0.311946 (82569/264690, TOPMED)
T=0.325799 (45591/139936, GnomAD) (+ 21 more)
T=0.29595 (23292/78702, PAGE_STUDY)
T=0.24662 (6969/28258, 14KJPN)
T=0.24570 (4118/16760, 8.3KJPN)
T=0.2983 (1910/6404, 1000G_30x)
T=0.2985 (1495/5008, 1000G)
T=0.3969 (1778/4480, Estonian)
T=0.3412 (1315/3854, ALSPAC)
T=0.3463 (1284/3708, TWINSUK)
T=0.2611 (765/2930, KOREAN)
T=0.2594 (540/2082, HGDP_Stanford)
T=0.3078 (578/1878, HapMap)
T=0.2424 (444/1832, Korea1K)
T=0.2773 (315/1136, Daghestan)
T=0.360 (359/998, GoNL)
T=0.328 (197/600, NorthernSweden)
T=0.234 (121/516, SGDP_PRJ)
T=0.306 (66/216, Qatari)
T=0.245 (53/216, Vietnamese)
T=0.27 (24/90, Ancient Sardinia)
T=0.27 (13/48, Siberian)
T=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COG6 : Intron 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 339750 T=0.332324 C=0.667676, G=0.000000
European Sub 293840 T=0.338334 C=0.661666, G=0.000000
African Sub 9740 T=0.3600 C=0.6400, G=0.0000
African Others Sub 362 T=0.343 C=0.657, G=0.000
African American Sub 9378 T=0.3606 C=0.6394, G=0.0000
Asian Sub 6818 T=0.2543 C=0.7457, G=0.0000
East Asian Sub 4904 T=0.2516 C=0.7484, G=0.0000
Other Asian Sub 1914 T=0.2612 C=0.7388, G=0.0000
Latin American 1 Sub 998 T=0.305 C=0.695, G=0.000
Latin American 2 Sub 6660 T=0.2285 C=0.7715, G=0.0000
South Asian Sub 5146 T=0.2748 C=0.7252, G=0.0000
Other Sub 16548 T=0.30282 C=0.69718, 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 334498 T=0.332295 C=0.667705, G=0.000000
Allele Frequency Aggregator European Sub 290566 T=0.338202 C=0.661798, G=0.000000
Allele Frequency Aggregator Other Sub 15726 T=0.30491 C=0.69509, G=0.00000
Allele Frequency Aggregator African Sub 8584 T=0.3627 C=0.6373, G=0.0000
Allele Frequency Aggregator Asian Sub 6818 T=0.2543 C=0.7457, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6660 T=0.2285 C=0.7715, G=0.0000
Allele Frequency Aggregator South Asian Sub 5146 T=0.2748 C=0.7252, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 998 T=0.305 C=0.695, G=0.000
TopMed Global Study-wide 264690 T=0.311946 C=0.688054
gnomAD - Genomes Global Study-wide 139936 T=0.325799 C=0.674201
gnomAD - Genomes European Sub 75856 T=0.34923 C=0.65077
gnomAD - Genomes African Sub 41838 T=0.33415 C=0.66585
gnomAD - Genomes American Sub 13646 T=0.22146 C=0.77854
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.2191 C=0.7809
gnomAD - Genomes East Asian Sub 3124 T=0.2279 C=0.7721
gnomAD - Genomes Other Sub 2150 T=0.3060 C=0.6940
The PAGE Study Global Study-wide 78702 T=0.29595 C=0.70405
The PAGE Study AfricanAmerican Sub 32516 T=0.34312 C=0.65688
The PAGE Study Mexican Sub 10810 T=0.22488 C=0.77512
The PAGE Study Asian Sub 8318 T=0.2594 C=0.7406
The PAGE Study PuertoRican Sub 7918 T=0.2589 C=0.7411
The PAGE Study NativeHawaiian Sub 4534 T=0.2889 C=0.7111
The PAGE Study Cuban Sub 4230 T=0.3038 C=0.6962
The PAGE Study Dominican Sub 3828 T=0.3117 C=0.6883
The PAGE Study CentralAmerican Sub 2450 T=0.2331 C=0.7669
The PAGE Study SouthAmerican Sub 1982 T=0.2603 C=0.7397
The PAGE Study NativeAmerican Sub 1260 T=0.3095 C=0.6905
The PAGE Study SouthAsian Sub 856 T=0.270 C=0.730
14KJPN JAPANESE Study-wide 28258 T=0.24662 C=0.75338
8.3KJPN JAPANESE Study-wide 16760 T=0.24570 C=0.75430
1000Genomes_30x Global Study-wide 6404 T=0.2983 C=0.7017
1000Genomes_30x African Sub 1786 T=0.3354 C=0.6646
1000Genomes_30x Europe Sub 1266 T=0.3452 C=0.6548
1000Genomes_30x South Asian Sub 1202 T=0.2995 C=0.7005
1000Genomes_30x East Asian Sub 1170 T=0.2368 C=0.7632
1000Genomes_30x American Sub 980 T=0.242 C=0.758
1000Genomes Global Study-wide 5008 T=0.2985 C=0.7015
1000Genomes African Sub 1322 T=0.3411 C=0.6589
1000Genomes East Asian Sub 1008 T=0.2351 C=0.7649
1000Genomes Europe Sub 1006 T=0.3429 C=0.6571
1000Genomes South Asian Sub 978 T=0.300 C=0.700
1000Genomes American Sub 694 T=0.244 C=0.756
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.3969 C=0.6031
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3412 C=0.6588
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3463 C=0.6537
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2611 A=0.0000, C=0.7389, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 T=0.2594 C=0.7406
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.204 C=0.796
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.295 C=0.705
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.274 C=0.726
HGDP-CEPH-db Supplement 1 Europe Sub 318 T=0.308 C=0.692
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.335 C=0.665
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.093 C=0.907
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.38 C=0.62
HapMap Global Study-wide 1878 T=0.3078 C=0.6922
HapMap American Sub 766 T=0.329 C=0.671
HapMap African Sub 688 T=0.324 C=0.676
HapMap Asian Sub 248 T=0.242 C=0.758
HapMap Europe Sub 176 T=0.244 C=0.756
Korean Genome Project KOREAN Study-wide 1832 T=0.2424 C=0.7576
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.2773 C=0.7227
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.280 C=0.720
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.229 C=0.771
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.238 C=0.762
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.407 C=0.593
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.26 C=0.74
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.22 C=0.78
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.360 C=0.640
Northern Sweden ACPOP Study-wide 600 T=0.328 C=0.672
SGDP_PRJ Global Study-wide 516 T=0.234 C=0.766
Qatari Global Study-wide 216 T=0.306 C=0.694
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.245 C=0.755
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 90 T=0.27 C=0.73
Siberian Global Study-wide 48 T=0.27 C=0.73
The Danish reference pan genome Danish Study-wide 40 T=0.28 C=0.72
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 13 NC_000013.11:g.39776775T>A
GRCh38.p14 chr 13 NC_000013.11:g.39776775T>C
GRCh38.p14 chr 13 NC_000013.11:g.39776775T>G
GRCh37.p13 chr 13 NC_000013.10:g.40350912T>A
GRCh37.p13 chr 13 NC_000013.10:g.40350912T>C
GRCh37.p13 chr 13 NC_000013.10:g.40350912T>G
COG6 RefSeqGene NG_028352.1:g.126149T>A
COG6 RefSeqGene NG_028352.1:g.126149T>C
COG6 RefSeqGene NG_028352.1:g.126149T>G
Gene: COG6, component of oligomeric golgi complex 6 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COG6 transcript variant 2 NM_001145079.2:c.1827-115…

NM_001145079.2:c.1827-11560T>A

N/A Intron Variant
COG6 transcript variant 1 NM_020751.3:c. N/A Genic Downstream Transcript Variant
COG6 transcript variant 3 NR_026745.1:n. N/A Genic Downstream Transcript Variant
COG6 transcript variant X1 XM_011535168.2:c. 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 G
GRCh38.p14 chr 13 NC_000013.11:g.39776775= NC_000013.11:g.39776775T>A NC_000013.11:g.39776775T>C NC_000013.11:g.39776775T>G
GRCh37.p13 chr 13 NC_000013.10:g.40350912= NC_000013.10:g.40350912T>A NC_000013.10:g.40350912T>C NC_000013.10:g.40350912T>G
COG6 RefSeqGene NG_028352.1:g.126149= NG_028352.1:g.126149T>A NG_028352.1:g.126149T>C NG_028352.1:g.126149T>G
COG6 transcript variant 2 NM_001145079.1:c.1827-11560= NM_001145079.1:c.1827-11560T>A NM_001145079.1:c.1827-11560T>C NM_001145079.1:c.1827-11560T>G
COG6 transcript variant 2 NM_001145079.2:c.1827-11560= NM_001145079.2:c.1827-11560T>A NM_001145079.2:c.1827-11560T>C NM_001145079.2:c.1827-11560T>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#.

157 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12251326 Jul 11, 2003 (116)
2 SC_SNP ss13251254 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss19271448 Feb 27, 2004 (120)
4 ABI ss43498445 Mar 14, 2006 (126)
5 ILLUMINA ss66596293 Nov 30, 2006 (127)
6 ILLUMINA ss67857448 Nov 30, 2006 (127)
7 ILLUMINA ss68007762 Nov 30, 2006 (127)
8 ILLUMINA ss70963299 May 26, 2008 (130)
9 ILLUMINA ss71572351 May 17, 2007 (127)
10 ILLUMINA ss74916015 Dec 07, 2007 (129)
11 ILLUMINA ss79277402 Dec 15, 2007 (130)
12 HGSV ss83256279 Dec 15, 2007 (130)
13 KRIBB_YJKIM ss84765084 Dec 15, 2007 (130)
14 BGI ss103113831 Dec 01, 2009 (131)
15 1000GENOMES ss112720262 Jan 25, 2009 (130)
16 1000GENOMES ss114594459 Jan 25, 2009 (130)
17 ILLUMINA-UK ss118434483 Feb 14, 2009 (130)
18 ILLUMINA ss122878485 Dec 01, 2009 (131)
19 ILLUMINA ss154461479 Dec 01, 2009 (131)
20 GMI ss154702798 Dec 01, 2009 (131)
21 ILLUMINA ss159636069 Dec 01, 2009 (131)
22 ILLUMINA ss160937371 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss167963137 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss169341554 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss171058896 Jul 04, 2010 (132)
26 ILLUMINA ss172380376 Jul 04, 2010 (132)
27 ILLUMINA ss174658677 Jul 04, 2010 (132)
28 BUSHMAN ss199117667 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss208507756 Jul 04, 2010 (132)
30 1000GENOMES ss226146917 Jul 14, 2010 (132)
31 1000GENOMES ss236224711 Jul 15, 2010 (132)
32 1000GENOMES ss242725230 Jul 15, 2010 (132)
33 BL ss254952128 May 09, 2011 (134)
34 GMI ss281685868 May 04, 2012 (137)
35 PJP ss291583656 May 09, 2011 (134)
36 ILLUMINA ss481744491 May 04, 2012 (137)
37 ILLUMINA ss481776322 May 04, 2012 (137)
38 ILLUMINA ss482740725 Sep 08, 2015 (146)
39 ILLUMINA ss485666970 May 04, 2012 (137)
40 EXOME_CHIP ss491478421 May 04, 2012 (137)
41 ILLUMINA ss537540970 Sep 08, 2015 (146)
42 TISHKOFF ss563624185 Apr 25, 2013 (138)
43 SSMP ss659223206 Apr 25, 2013 (138)
44 ILLUMINA ss778993640 Aug 21, 2014 (142)
45 ILLUMINA ss780686938 Aug 21, 2014 (142)
46 ILLUMINA ss783279065 Aug 21, 2014 (142)
47 ILLUMINA ss783360479 Aug 21, 2014 (142)
48 ILLUMINA ss784232083 Aug 21, 2014 (142)
49 ILLUMINA ss825607920 Apr 01, 2015 (144)
50 ILLUMINA ss832540186 Apr 01, 2015 (144)
51 ILLUMINA ss833146937 Aug 21, 2014 (142)
52 ILLUMINA ss833737765 Aug 21, 2014 (142)
53 ILLUMINA ss834455922 Aug 21, 2014 (142)
54 EVA-GONL ss990315269 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1079029180 Aug 21, 2014 (142)
56 1000GENOMES ss1347936627 Aug 21, 2014 (142)
57 HAMMER_LAB ss1397655859 Sep 08, 2015 (146)
58 DDI ss1427166956 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1576744849 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1630128744 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1673122777 Apr 01, 2015 (144)
62 EVA_DECODE ss1684835699 Apr 01, 2015 (144)
63 EVA_SVP ss1713385585 Apr 01, 2015 (144)
64 ILLUMINA ss1752103664 Sep 08, 2015 (146)
65 ILLUMINA ss1752103665 Sep 08, 2015 (146)
66 HAMMER_LAB ss1807579258 Sep 08, 2015 (146)
67 ILLUMINA ss1917882895 Feb 12, 2016 (147)
68 WEILL_CORNELL_DGM ss1933683681 Feb 12, 2016 (147)
69 ILLUMINA ss1946359396 Feb 12, 2016 (147)
70 ILLUMINA ss1946359397 Feb 12, 2016 (147)
71 ILLUMINA ss1959496066 Feb 12, 2016 (147)
72 ILLUMINA ss1959496067 Feb 12, 2016 (147)
73 GENOMED ss1967765460 Jul 19, 2016 (147)
74 JJLAB ss2027600534 Sep 14, 2016 (149)
75 ILLUMINA ss2094795093 Dec 20, 2016 (150)
76 ILLUMINA ss2095043322 Dec 20, 2016 (150)
77 USC_VALOUEV ss2155965367 Dec 20, 2016 (150)
78 HUMAN_LONGEVITY ss2195752885 Dec 20, 2016 (150)
79 SYSTEMSBIOZJU ss2628289881 Nov 08, 2017 (151)
80 ILLUMINA ss2633055054 Nov 08, 2017 (151)
81 GRF ss2700339954 Nov 08, 2017 (151)
82 ILLUMINA ss2710781512 Nov 08, 2017 (151)
83 GNOMAD ss2918830992 Nov 08, 2017 (151)
84 AFFY ss2985002096 Nov 08, 2017 (151)
85 SWEGEN ss3010902509 Nov 08, 2017 (151)
86 ILLUMINA ss3021502151 Nov 08, 2017 (151)
87 ILLUMINA ss3021502152 Nov 08, 2017 (151)
88 BIOINF_KMB_FNS_UNIBA ss3027617220 Nov 08, 2017 (151)
89 CSHL ss3350421454 Nov 08, 2017 (151)
90 ILLUMINA ss3625642335 Oct 12, 2018 (152)
91 ILLUMINA ss3627049084 Oct 12, 2018 (152)
92 ILLUMINA ss3627049085 Oct 12, 2018 (152)
93 ILLUMINA ss3631058803 Oct 12, 2018 (152)
94 ILLUMINA ss3633047563 Oct 12, 2018 (152)
95 ILLUMINA ss3633749814 Oct 12, 2018 (152)
96 ILLUMINA ss3634541644 Oct 12, 2018 (152)
97 ILLUMINA ss3634541645 Oct 12, 2018 (152)
98 ILLUMINA ss3635439949 Oct 12, 2018 (152)
99 ILLUMINA ss3636228364 Oct 12, 2018 (152)
100 ILLUMINA ss3637191022 Oct 12, 2018 (152)
101 ILLUMINA ss3638007193 Oct 12, 2018 (152)
102 ILLUMINA ss3639016562 Oct 12, 2018 (152)
103 ILLUMINA ss3639511619 Oct 12, 2018 (152)
104 ILLUMINA ss3640248975 Oct 12, 2018 (152)
105 ILLUMINA ss3640248976 Oct 12, 2018 (152)
106 ILLUMINA ss3641040537 Oct 12, 2018 (152)
107 ILLUMINA ss3641335428 Oct 12, 2018 (152)
108 ILLUMINA ss3642997291 Oct 12, 2018 (152)
109 ILLUMINA ss3644612429 Oct 12, 2018 (152)
110 ILLUMINA ss3644612430 Oct 12, 2018 (152)
111 ILLUMINA ss3651887907 Oct 12, 2018 (152)
112 ILLUMINA ss3651887908 Oct 12, 2018 (152)
113 ILLUMINA ss3653772800 Oct 12, 2018 (152)
114 EGCUT_WGS ss3678167603 Jul 13, 2019 (153)
115 EVA_DECODE ss3695148523 Jul 13, 2019 (153)
116 ILLUMINA ss3725388555 Jul 13, 2019 (153)
117 ACPOP ss3739684413 Jul 13, 2019 (153)
118 ILLUMINA ss3744110638 Jul 13, 2019 (153)
119 ILLUMINA ss3744405389 Jul 13, 2019 (153)
120 ILLUMINA ss3744842350 Jul 13, 2019 (153)
121 ILLUMINA ss3744842351 Jul 13, 2019 (153)
122 EVA ss3751375072 Jul 13, 2019 (153)
123 PAGE_CC ss3771742154 Jul 13, 2019 (153)
124 ILLUMINA ss3772341429 Jul 13, 2019 (153)
125 ILLUMINA ss3772341430 Jul 13, 2019 (153)
126 PACBIO ss3787437268 Jul 13, 2019 (153)
127 PACBIO ss3792506725 Jul 13, 2019 (153)
128 PACBIO ss3797390504 Jul 13, 2019 (153)
129 KHV_HUMAN_GENOMES ss3816706827 Jul 13, 2019 (153)
130 EVA ss3833509562 Apr 27, 2020 (154)
131 EVA ss3840334899 Apr 27, 2020 (154)
132 EVA ss3845820245 Apr 27, 2020 (154)
133 HGDP ss3847476357 Apr 27, 2020 (154)
134 SGDP_PRJ ss3879825444 Apr 27, 2020 (154)
135 KRGDB ss3928660671 Apr 27, 2020 (154)
136 KOGIC ss3973418879 Apr 27, 2020 (154)
137 EVA ss3984679205 Apr 26, 2021 (155)
138 EVA ss3984679206 Apr 26, 2021 (155)
139 EVA ss3985636250 Apr 26, 2021 (155)
140 TOPMED ss4943762549 Apr 26, 2021 (155)
141 TOMMO_GENOMICS ss5209667410 Apr 26, 2021 (155)
142 1000G_HIGH_COVERAGE ss5293482766 Oct 16, 2022 (156)
143 EVA ss5315678344 Oct 16, 2022 (156)
144 EVA ss5410312685 Oct 16, 2022 (156)
145 HUGCELL_USP ss5487873016 Oct 16, 2022 (156)
146 EVA ss5510947552 Oct 16, 2022 (156)
147 1000G_HIGH_COVERAGE ss5592307914 Oct 16, 2022 (156)
148 SANFORD_IMAGENETICS ss5624322577 Oct 16, 2022 (156)
149 SANFORD_IMAGENETICS ss5654625991 Oct 16, 2022 (156)
150 TOMMO_GENOMICS ss5761448131 Oct 16, 2022 (156)
151 EVA ss5799895368 Oct 16, 2022 (156)
152 YY_MCH ss5814047529 Oct 16, 2022 (156)
153 EVA ss5839376812 Oct 16, 2022 (156)
154 EVA ss5847696408 Oct 16, 2022 (156)
155 EVA ss5850697188 Oct 16, 2022 (156)
156 EVA ss5924819398 Oct 16, 2022 (156)
157 EVA ss5946040980 Oct 16, 2022 (156)
158 1000Genomes NC_000013.10 - 40350912 Oct 12, 2018 (152)
159 1000Genomes_30x NC_000013.11 - 39776775 Oct 16, 2022 (156)
160 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 40350912 Oct 12, 2018 (152)
161 Genome-wide autozygosity in Daghestan NC_000013.9 - 39248912 Apr 27, 2020 (154)
162 Genetic variation in the Estonian population NC_000013.10 - 40350912 Oct 12, 2018 (152)
163 The Danish reference pan genome NC_000013.10 - 40350912 Apr 27, 2020 (154)
164 gnomAD - Genomes NC_000013.11 - 39776775 Apr 26, 2021 (155)
165 Genome of the Netherlands Release 5 NC_000013.10 - 40350912 Apr 27, 2020 (154)
166 HGDP-CEPH-db Supplement 1 NC_000013.9 - 39248912 Apr 27, 2020 (154)
167 HapMap NC_000013.11 - 39776775 Apr 27, 2020 (154)
168 KOREAN population from KRGDB NC_000013.10 - 40350912 Apr 27, 2020 (154)
169 Korean Genome Project NC_000013.11 - 39776775 Apr 27, 2020 (154)
170 Northern Sweden NC_000013.10 - 40350912 Jul 13, 2019 (153)
171 The PAGE Study NC_000013.11 - 39776775 Jul 13, 2019 (153)
172 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 40350912 Apr 26, 2021 (155)
173 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 228709 (NC_000013.10:40350911:T:C 619/790)
Row 228710 (NC_000013.10:40350911:T:C 619/790)

- Apr 26, 2021 (155)
174 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 228709 (NC_000013.10:40350911:T:C 619/790)
Row 228710 (NC_000013.10:40350911:T:C 619/790)

- Apr 26, 2021 (155)
175 Qatari NC_000013.10 - 40350912 Apr 27, 2020 (154)
176 SGDP_PRJ NC_000013.10 - 40350912 Apr 27, 2020 (154)
177 Siberian NC_000013.10 - 40350912 Apr 27, 2020 (154)
178 8.3KJPN NC_000013.10 - 40350912 Apr 26, 2021 (155)
179 14KJPN NC_000013.11 - 39776775 Oct 16, 2022 (156)
180 TopMed NC_000013.11 - 39776775 Apr 26, 2021 (155)
181 UK 10K study - Twins NC_000013.10 - 40350912 Oct 12, 2018 (152)
182 A Vietnamese Genetic Variation Database NC_000013.10 - 40350912 Jul 13, 2019 (153)
183 ALFA NC_000013.11 - 39776775 Apr 26, 2021 (155)
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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)
rs60461797 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
35838065, ss3928660671 NC_000013.10:40350911:T:A NC_000013.11:39776774:T:A (self)
126507, 154249, ss83256279, ss112720262, ss114594459, ss118434483, ss160937371, ss167963137, ss169341554, ss171058896, ss199117667, ss208507756, ss254952128, ss281685868, ss291583656, ss481744491, ss825607920, ss1397655859, ss1684835699, ss1713385585, ss3639016562, ss3639511619, ss3642997291, ss3847476357 NC_000013.9:39248911:T:C NC_000013.11:39776774:T:C (self)
60797011, 33772438, 23905851, 3270079, 15069840, 35838065, 12969278, 862177, 15725611, 31842424, 8481721, 67636717, 33772438, 7492525, ss226146917, ss236224711, ss242725230, ss481776322, ss482740725, ss485666970, ss491478421, ss537540970, ss563624185, ss659223206, ss778993640, ss780686938, ss783279065, ss783360479, ss784232083, ss832540186, ss833146937, ss833737765, ss834455922, ss990315269, ss1079029180, ss1347936627, ss1427166956, ss1576744849, ss1630128744, ss1673122777, ss1752103664, ss1752103665, ss1807579258, ss1917882895, ss1933683681, ss1946359396, ss1946359397, ss1959496066, ss1959496067, ss1967765460, ss2027600534, ss2094795093, ss2095043322, ss2155965367, ss2628289881, ss2633055054, ss2700339954, ss2710781512, ss2918830992, ss2985002096, ss3010902509, ss3021502151, ss3021502152, ss3350421454, ss3625642335, ss3627049084, ss3627049085, ss3631058803, ss3633047563, ss3633749814, ss3634541644, ss3634541645, ss3635439949, ss3636228364, ss3637191022, ss3638007193, ss3640248975, ss3640248976, ss3641040537, ss3641335428, ss3644612429, ss3644612430, ss3651887907, ss3651887908, ss3653772800, ss3678167603, ss3739684413, ss3744110638, ss3744405389, ss3744842350, ss3744842351, ss3751375072, ss3772341429, ss3772341430, ss3787437268, ss3792506725, ss3797390504, ss3833509562, ss3840334899, ss3879825444, ss3928660671, ss3984679205, ss3984679206, ss3985636250, ss5209667410, ss5315678344, ss5410312685, ss5510947552, ss5624322577, ss5654625991, ss5799895368, ss5839376812, ss5847696408, ss5946040980 NC_000013.10:40350911:T:C NC_000013.11:39776774:T:C (self)
79833849, 428649222, 974795, 29796880, 963623, 95285235, 159308207, 7775934487, ss2195752885, ss3027617220, ss3695148523, ss3725388555, ss3771742154, ss3816706827, ss3845820245, ss3973418879, ss4943762549, ss5293482766, ss5487873016, ss5592307914, ss5761448131, ss5814047529, ss5850697188, ss5924819398 NC_000013.11:39776774:T:C NC_000013.11:39776774:T:C (self)
ss12251326, ss13251254 NT_024524.12:8925402:T:C NC_000013.11:39776774:T:C (self)
ss19271448 NT_024524.13:21330911:T:C NC_000013.11:39776774:T:C (self)
ss43498445, ss66596293, ss67857448, ss68007762, ss70963299, ss71572351, ss74916015, ss79277402, ss84765084, ss103113831, ss122878485, ss154461479, ss154702798, ss159636069, ss172380376, ss174658677 NT_024524.14:21330911:T:C NC_000013.11:39776774:T:C (self)
35838065, ss3928660671 NC_000013.10:40350911:T:G NC_000013.11:39776774:T:G (self)
7775934487 NC_000013.11:39776774:T:G NC_000013.11:39776774: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.

5 citations for rs7993214
PMID Title Author Year Journal
18369459 A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. Liu Y et al. 2008 PLoS genetics
20722033 The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. Thompson SD et al. 2010 Arthritis and rheumatism
25655172 Filter-free exhaustive odds ratio-based genome-wide interaction approach pinpoints evidence for interaction in the HLA region in psoriasis. Grange L et al. 2015 BMC genetics
26993500 Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression. Cavalli M et al. 2016 Human genetics
28617847 The association between 38 previously reported polymorphisms and psoriasis in a Polish population: High predicative accuracy of a genetic risk score combining 16 loci. Kisiel B et al. 2017 PloS one
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