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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.

rs6031882

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:37181380 (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=0.411912 (109029/264690, TOPMED)
C=0.367042 (81727/222664, ALFA)
C=0.38360 (30186/78692, PAGE_STUDY) (+ 19 more)
C=0.00761 (215/28258, 14KJPN)
C=0.00770 (129/16760, 8.3KJPN)
C=0.3317 (2124/6404, 1000G_30x)
C=0.3239 (1622/5008, 1000G)
C=0.3922 (1757/4480, Estonian)
C=0.3926 (1513/3854, ALSPAC)
C=0.3784 (1403/3708, TWINSUK)
C=0.0038 (11/2922, KOREAN)
C=0.2644 (551/2084, HGDP_Stanford)
C=0.3672 (694/1890, HapMap)
C=0.0038 (7/1832, Korea1K)
C=0.383 (382/998, GoNL)
C=0.010 (8/792, PRJEB37584)
C=0.372 (223/600, NorthernSweden)
T=0.331 (80/242, SGDP_PRJ)
C=0.486 (105/216, Qatari)
C=0.48 (30/62, Ancient Sardinia)
C=0.30 (12/40, GENOME_DK)
T=0.44 (14/32, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RPN2 : Intron Variant
MROH8 : 2KB Upstream Variant
Publications
1 citation
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 222880 T=0.632928 A=0.000000, C=0.367072, G=0.000000
European Sub 192936 T=0.617303 A=0.000000, C=0.382697, G=0.000000
African Sub 5822 T=0.4985 A=0.0000, C=0.5015, G=0.0000
African Others Sub 214 T=0.467 A=0.000, C=0.533, G=0.000
African American Sub 5608 T=0.4996 A=0.0000, C=0.5004, G=0.0000
Asian Sub 6368 T=0.9929 A=0.0000, C=0.0071, G=0.0000
East Asian Sub 4536 T=0.9951 A=0.0000, C=0.0049, G=0.0000
Other Asian Sub 1832 T=0.9874 A=0.0000, C=0.0126, G=0.0000
Latin American 1 Sub 450 T=0.569 A=0.000, C=0.431, G=0.000
Latin American 2 Sub 1334 T=0.8006 A=0.0000, C=0.1994, G=0.0000
South Asian Sub 5094 T=0.7367 A=0.0000, C=0.2633, G=0.0000
Other Sub 10876 T=0.70476 A=0.00000, C=0.29524, 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
TopMed Global Study-wide 264690 T=0.588088 C=0.411912
Allele Frequency Aggregator Total Global 222664 T=0.632958 A=0.000000, C=0.367042, G=0.000000
Allele Frequency Aggregator European Sub 192756 T=0.617319 A=0.000000, C=0.382681, G=0.000000
Allele Frequency Aggregator Other Sub 10854 T=0.70509 A=0.00000, C=0.29491, G=0.00000
Allele Frequency Aggregator Asian Sub 6368 T=0.9929 A=0.0000, C=0.0071, G=0.0000
Allele Frequency Aggregator African Sub 5808 T=0.4979 A=0.0000, C=0.5021, G=0.0000
Allele Frequency Aggregator South Asian Sub 5094 T=0.7367 A=0.0000, C=0.2633, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1334 T=0.8006 A=0.0000, C=0.1994, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 450 T=0.569 A=0.000, C=0.431, G=0.000
The PAGE Study Global Study-wide 78692 T=0.61640 C=0.38360
The PAGE Study AfricanAmerican Sub 32510 T=0.43903 C=0.56097
The PAGE Study Mexican Sub 10808 T=0.77840 C=0.22160
The PAGE Study Asian Sub 8318 T=0.9891 C=0.0109
The PAGE Study PuertoRican Sub 7918 T=0.6033 C=0.3967
The PAGE Study NativeHawaiian Sub 4534 T=0.7949 C=0.2051
The PAGE Study Cuban Sub 4230 T=0.5650 C=0.4350
The PAGE Study Dominican Sub 3828 T=0.5381 C=0.4619
The PAGE Study CentralAmerican Sub 2450 T=0.7404 C=0.2596
The PAGE Study SouthAmerican Sub 1982 T=0.7508 C=0.2492
The PAGE Study NativeAmerican Sub 1260 T=0.6381 C=0.3619
The PAGE Study SouthAsian Sub 854 T=0.768 C=0.232
14KJPN JAPANESE Study-wide 28258 T=0.99239 C=0.00761
8.3KJPN JAPANESE Study-wide 16760 T=0.99230 C=0.00770
1000Genomes_30x Global Study-wide 6404 T=0.6683 C=0.3317
1000Genomes_30x African Sub 1786 T=0.4132 C=0.5868
1000Genomes_30x Europe Sub 1266 T=0.6169 C=0.3831
1000Genomes_30x South Asian Sub 1202 T=0.7371 C=0.2629
1000Genomes_30x East Asian Sub 1170 T=0.9906 C=0.0094
1000Genomes_30x American Sub 980 T=0.731 C=0.269
1000Genomes Global Study-wide 5008 T=0.6761 C=0.3239
1000Genomes African Sub 1322 T=0.4085 C=0.5915
1000Genomes East Asian Sub 1008 T=0.9891 C=0.0109
1000Genomes Europe Sub 1006 T=0.6093 C=0.3907
1000Genomes South Asian Sub 978 T=0.741 C=0.259
1000Genomes American Sub 694 T=0.736 C=0.264
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6078 C=0.3922
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6074 C=0.3926
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6216 C=0.3784
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9962 C=0.0038
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.7356 C=0.2644
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.985 C=0.015
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.742 C=0.258
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.540 C=0.460
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.597 C=0.403
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.393 C=0.607
HGDP-CEPH-db Supplement 1 America Sub 216 T=1.000 C=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=1.00 C=0.00
HapMap Global Study-wide 1890 T=0.6328 C=0.3672
HapMap American Sub 768 T=0.703 C=0.297
HapMap African Sub 692 T=0.439 C=0.561
HapMap Asian Sub 254 T=0.980 C=0.020
HapMap Europe Sub 176 T=0.585 C=0.415
Korean Genome Project KOREAN Study-wide 1832 T=0.9962 C=0.0038
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.617 C=0.383
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.990 C=0.010
CNV burdens in cranial meningiomas CRM Sub 792 T=0.990 C=0.010
Northern Sweden ACPOP Study-wide 600 T=0.628 C=0.372
SGDP_PRJ Global Study-wide 242 T=0.331 C=0.669
Qatari Global Study-wide 216 T=0.514 C=0.486
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 62 T=0.52 C=0.48
The Danish reference pan genome Danish Study-wide 40 T=0.70 C=0.30
Siberian Global Study-wide 32 T=0.44 C=0.56
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 20 NC_000020.11:g.37181380T>A
GRCh38.p14 chr 20 NC_000020.11:g.37181380T>C
GRCh38.p14 chr 20 NC_000020.11:g.37181380T>G
GRCh37.p13 chr 20 NC_000020.10:g.35809783T>A
GRCh37.p13 chr 20 NC_000020.10:g.35809783T>C
GRCh37.p13 chr 20 NC_000020.10:g.35809783T>G
MROH8 RefSeqGene NG_033795.2:g.3169A>T
MROH8 RefSeqGene NG_033795.2:g.3169A>G
MROH8 RefSeqGene NG_033795.2:g.3169A>C
GRCh38.p14 chr 20 fix patch HG410_PATCH NW_025791812.1:g.90882T>A
GRCh38.p14 chr 20 fix patch HG410_PATCH NW_025791812.1:g.90882T>C
GRCh38.p14 chr 20 fix patch HG410_PATCH NW_025791812.1:g.90882T>G
RPN2 RefSeqGene NG_042268.1:g.7328T>A
RPN2 RefSeqGene NG_042268.1:g.7328T>C
RPN2 RefSeqGene NG_042268.1:g.7328T>G
Gene: RPN2, ribophorin II (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RPN2 transcript variant 2 NM_001135771.3:c.13+2011T…

NM_001135771.3:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant 3 NM_001324299.2:c.13+2011T…

NM_001324299.2:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant 4 NM_001324301.2:c.13+2011T…

NM_001324301.2:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant 5 NM_001324302.2:c.13+2011T…

NM_001324302.2:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant 6 NM_001324303.2:c.13+2011T…

NM_001324303.2:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant 7 NM_001324304.2:c.13+2011T…

NM_001324304.2:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant 8 NM_001324305.2:c.13+2011T…

NM_001324305.2:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant 9 NM_001324306.2:c.-187+201…

NM_001324306.2:c.-187+2011T>A

N/A Intron Variant
RPN2 transcript variant 1 NM_002951.5:c.13+2011T>A N/A Intron Variant
RPN2 transcript variant X1 XM_006723851.4:c.13+2011T…

XM_006723851.4:c.13+2011T>A

N/A Intron Variant
RPN2 transcript variant X2 XM_006723852.4:c.13+2011T…

XM_006723852.4:c.13+2011T>A

N/A Intron Variant
Gene: MROH8, maestro heat like repeat family member 8 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MROH8 transcript variant 1 NM_152503.7:c. N/A Upstream Transcript Variant
MROH8 transcript variant 2 NM_213631.3:c. N/A Upstream Transcript Variant
MROH8 transcript variant 3 NM_213632.3:c. N/A Upstream 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 20 NC_000020.11:g.37181380= NC_000020.11:g.37181380T>A NC_000020.11:g.37181380T>C NC_000020.11:g.37181380T>G
GRCh37.p13 chr 20 NC_000020.10:g.35809783= NC_000020.10:g.35809783T>A NC_000020.10:g.35809783T>C NC_000020.10:g.35809783T>G
MROH8 RefSeqGene NG_033795.2:g.3169= NG_033795.2:g.3169A>T NG_033795.2:g.3169A>G NG_033795.2:g.3169A>C
GRCh38.p14 chr 20 fix patch HG410_PATCH NW_025791812.1:g.90882= NW_025791812.1:g.90882T>A NW_025791812.1:g.90882T>C NW_025791812.1:g.90882T>G
RPN2 RefSeqGene NG_042268.1:g.7328= NG_042268.1:g.7328T>A NG_042268.1:g.7328T>C NG_042268.1:g.7328T>G
RPN2 transcript variant 2 NM_001135771.1:c.13+2011= NM_001135771.1:c.13+2011T>A NM_001135771.1:c.13+2011T>C NM_001135771.1:c.13+2011T>G
RPN2 transcript variant 2 NM_001135771.3:c.13+2011= NM_001135771.3:c.13+2011T>A NM_001135771.3:c.13+2011T>C NM_001135771.3:c.13+2011T>G
RPN2 transcript variant 3 NM_001324299.2:c.13+2011= NM_001324299.2:c.13+2011T>A NM_001324299.2:c.13+2011T>C NM_001324299.2:c.13+2011T>G
RPN2 transcript variant 4 NM_001324301.2:c.13+2011= NM_001324301.2:c.13+2011T>A NM_001324301.2:c.13+2011T>C NM_001324301.2:c.13+2011T>G
RPN2 transcript variant 5 NM_001324302.2:c.13+2011= NM_001324302.2:c.13+2011T>A NM_001324302.2:c.13+2011T>C NM_001324302.2:c.13+2011T>G
RPN2 transcript variant 6 NM_001324303.2:c.13+2011= NM_001324303.2:c.13+2011T>A NM_001324303.2:c.13+2011T>C NM_001324303.2:c.13+2011T>G
RPN2 transcript variant 7 NM_001324304.2:c.13+2011= NM_001324304.2:c.13+2011T>A NM_001324304.2:c.13+2011T>C NM_001324304.2:c.13+2011T>G
RPN2 transcript variant 8 NM_001324305.2:c.13+2011= NM_001324305.2:c.13+2011T>A NM_001324305.2:c.13+2011T>C NM_001324305.2:c.13+2011T>G
RPN2 transcript variant 9 NM_001324306.2:c.-187+2011= NM_001324306.2:c.-187+2011T>A NM_001324306.2:c.-187+2011T>C NM_001324306.2:c.-187+2011T>G
RPN2 transcript variant 1 NM_002951.3:c.13+2011= NM_002951.3:c.13+2011T>A NM_002951.3:c.13+2011T>C NM_002951.3:c.13+2011T>G
RPN2 transcript variant 1 NM_002951.5:c.13+2011= NM_002951.5:c.13+2011T>A NM_002951.5:c.13+2011T>C NM_002951.5:c.13+2011T>G
RPN2 transcript variant X2 XM_005260491.1:c.13+2011= XM_005260491.1:c.13+2011T>A XM_005260491.1:c.13+2011T>C XM_005260491.1:c.13+2011T>G
RPN2 transcript variant X2 XM_005260492.1:c.13+2011= XM_005260492.1:c.13+2011T>A XM_005260492.1:c.13+2011T>C XM_005260492.1:c.13+2011T>G
RPN2 transcript variant X3 XM_005260493.1:c.13+2011= XM_005260493.1:c.13+2011T>A XM_005260493.1:c.13+2011T>C XM_005260493.1:c.13+2011T>G
RPN2 transcript variant X1 XM_006723851.4:c.13+2011= XM_006723851.4:c.13+2011T>A XM_006723851.4:c.13+2011T>C XM_006723851.4:c.13+2011T>G
RPN2 transcript variant X2 XM_006723852.4:c.13+2011= XM_006723852.4:c.13+2011T>A XM_006723852.4:c.13+2011T>C XM_006723852.4:c.13+2011T>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#.

109 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8337737 Apr 21, 2003 (114)
2 SC_SNP ss11109031 Jul 11, 2003 (117)
3 ILLUMINA ss67436183 Dec 02, 2006 (127)
4 ILLUMINA ss67790878 Dec 02, 2006 (127)
5 ILLUMINA ss68247237 Dec 12, 2006 (127)
6 ILLUMINA ss70855091 May 25, 2008 (130)
7 ILLUMINA ss71441323 May 18, 2007 (127)
8 ILLUMINA ss75762517 Dec 07, 2007 (129)
9 KRIBB_YJKIM ss84450793 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss91691045 Mar 24, 2008 (129)
11 1000GENOMES ss111944598 Jan 25, 2009 (130)
12 1000GENOMES ss113302887 Jan 25, 2009 (130)
13 ILLUMINA ss154349739 Dec 01, 2009 (131)
14 ILLUMINA ss159526041 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss169541571 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss172061579 Jul 04, 2010 (132)
17 ILLUMINA ss173966519 Jul 04, 2010 (132)
18 BUSHMAN ss203881702 Jul 04, 2010 (132)
19 1000GENOMES ss228340602 Jul 14, 2010 (132)
20 1000GENOMES ss237823496 Jul 15, 2010 (132)
21 BL ss255619320 May 09, 2011 (134)
22 ILLUMINA ss410939677 Sep 17, 2011 (135)
23 EXOME_CHIP ss491560507 May 04, 2012 (137)
24 ILLUMINA ss537332059 Sep 08, 2015 (146)
25 TISHKOFF ss566234584 Apr 25, 2013 (138)
26 SSMP ss662116453 Apr 25, 2013 (138)
27 ILLUMINA ss780685701 Aug 21, 2014 (142)
28 ILLUMINA ss783359201 Aug 21, 2014 (142)
29 ILLUMINA ss833037302 Aug 21, 2014 (142)
30 ILLUMINA ss833628130 Aug 21, 2014 (142)
31 EVA-GONL ss994701310 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1082189151 Aug 21, 2014 (142)
33 1000GENOMES ss1364699775 Aug 21, 2014 (142)
34 DDI ss1429048868 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1579498389 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1638739337 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1681733370 Apr 01, 2015 (144)
38 EVA_DECODE ss1698760450 Apr 01, 2015 (144)
39 EVA_SVP ss1713692046 Apr 01, 2015 (144)
40 ILLUMINA ss1752384720 Sep 08, 2015 (146)
41 HAMMER_LAB ss1809492823 Sep 08, 2015 (146)
42 ILLUMINA ss1917946907 Feb 12, 2016 (147)
43 WEILL_CORNELL_DGM ss1938215380 Feb 12, 2016 (147)
44 ILLUMINA ss1946551557 Feb 12, 2016 (147)
45 ILLUMINA ss1959913801 Feb 12, 2016 (147)
46 AMU ss1966654326 Feb 12, 2016 (147)
47 JJLAB ss2029888239 Sep 14, 2016 (149)
48 USC_VALOUEV ss2158453962 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2242606598 Dec 20, 2016 (150)
50 ILLUMINA ss2633795141 Nov 08, 2017 (151)
51 GNOMAD ss2967230670 Nov 08, 2017 (151)
52 AFFY ss2985214538 Nov 08, 2017 (151)
53 SWEGEN ss3018157070 Nov 08, 2017 (151)
54 ILLUMINA ss3022117506 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3028776767 Nov 08, 2017 (151)
56 CSHL ss3352503282 Nov 08, 2017 (151)
57 ILLUMINA ss3628386435 Oct 12, 2018 (152)
58 ILLUMINA ss3628386436 Oct 12, 2018 (152)
59 ILLUMINA ss3634834608 Oct 12, 2018 (152)
60 ILLUMINA ss3638344601 Oct 12, 2018 (152)
61 ILLUMINA ss3639175631 Oct 12, 2018 (152)
62 ILLUMINA ss3639891334 Oct 12, 2018 (152)
63 ILLUMINA ss3640541906 Oct 12, 2018 (152)
64 ILLUMINA ss3643307503 Oct 12, 2018 (152)
65 ILLUMINA ss3643939035 Oct 12, 2018 (152)
66 ILLUMINA ss3644781942 Oct 12, 2018 (152)
67 ILLUMINA ss3652572581 Oct 12, 2018 (152)
68 ILLUMINA ss3653983364 Oct 12, 2018 (152)
69 EGCUT_WGS ss3684836563 Jul 13, 2019 (153)
70 EVA_DECODE ss3706911031 Jul 13, 2019 (153)
71 ILLUMINA ss3725913731 Jul 13, 2019 (153)
72 ACPOP ss3743378161 Jul 13, 2019 (153)
73 ILLUMINA ss3744493418 Jul 13, 2019 (153)
74 ILLUMINA ss3745134505 Jul 13, 2019 (153)
75 EVA ss3758618432 Jul 13, 2019 (153)
76 PAGE_CC ss3772046831 Jul 13, 2019 (153)
77 ILLUMINA ss3772630702 Jul 13, 2019 (153)
78 PACBIO ss3788643436 Jul 13, 2019 (153)
79 PACBIO ss3793535804 Jul 13, 2019 (153)
80 PACBIO ss3798422711 Jul 13, 2019 (153)
81 KHV_HUMAN_GENOMES ss3821784894 Jul 13, 2019 (153)
82 EVA ss3835663082 Apr 27, 2020 (154)
83 EVA ss3841457190 Apr 27, 2020 (154)
84 EVA ss3846969831 Apr 27, 2020 (154)
85 HGDP ss3847666327 Apr 27, 2020 (154)
86 SGDP_PRJ ss3889065856 Apr 27, 2020 (154)
87 KRGDB ss3939350119 Apr 27, 2020 (154)
88 KOGIC ss3982247274 Apr 27, 2020 (154)
89 EVA ss3984749552 Apr 27, 2021 (155)
90 EVA ss3985877542 Apr 27, 2021 (155)
91 TOPMED ss5088006161 Apr 27, 2021 (155)
92 TOMMO_GENOMICS ss5229573009 Apr 27, 2021 (155)
93 EVA ss5237604982 Apr 27, 2021 (155)
94 1000G_HIGH_COVERAGE ss5308739043 Oct 16, 2022 (156)
95 EVA ss5316005625 Oct 16, 2022 (156)
96 EVA ss5437290688 Oct 16, 2022 (156)
97 HUGCELL_USP ss5501021108 Oct 16, 2022 (156)
98 EVA ss5512211589 Oct 16, 2022 (156)
99 1000G_HIGH_COVERAGE ss5615169029 Oct 16, 2022 (156)
100 SANFORD_IMAGENETICS ss5624484860 Oct 16, 2022 (156)
101 SANFORD_IMAGENETICS ss5663179296 Oct 16, 2022 (156)
102 TOMMO_GENOMICS ss5789352946 Oct 16, 2022 (156)
103 YY_MCH ss5818030547 Oct 16, 2022 (156)
104 EVA ss5845670002 Oct 16, 2022 (156)
105 EVA ss5847505283 Oct 16, 2022 (156)
106 EVA ss5853132688 Oct 16, 2022 (156)
107 EVA ss5923353583 Oct 16, 2022 (156)
108 EVA ss5958091117 Oct 16, 2022 (156)
109 EVA ss5979615372 Oct 16, 2022 (156)
110 1000Genomes NC_000020.10 - 35809783 Oct 12, 2018 (152)
111 1000Genomes_30x NC_000020.11 - 37181380 Oct 16, 2022 (156)
112 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 35809783 Oct 12, 2018 (152)
113 Genetic variation in the Estonian population NC_000020.10 - 35809783 Oct 12, 2018 (152)
114 The Danish reference pan genome NC_000020.10 - 35809783 Apr 27, 2020 (154)
115 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551371685 (NC_000020.11:37181379:T:C 58394/139342)
Row 551371686 (NC_000020.11:37181379:T:G 4/139428)

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

Submission ignored due to conflicting rows:
Row 551371685 (NC_000020.11:37181379:T:C 58394/139342)
Row 551371686 (NC_000020.11:37181379:T:G 4/139428)

- Apr 27, 2021 (155)
117 Genome of the Netherlands Release 5 NC_000020.10 - 35809783 Apr 27, 2020 (154)
118 HGDP-CEPH-db Supplement 1 NC_000020.9 - 35243197 Apr 27, 2020 (154)
119 HapMap NC_000020.11 - 37181380 Apr 27, 2020 (154)
120 KOREAN population from KRGDB NC_000020.10 - 35809783 Apr 27, 2020 (154)
121 Korean Genome Project NC_000020.11 - 37181380 Apr 27, 2020 (154)
122 Northern Sweden NC_000020.10 - 35809783 Jul 13, 2019 (153)
123 The PAGE Study NC_000020.11 - 37181380 Jul 13, 2019 (153)
124 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 35809783 Apr 27, 2021 (155)
125 CNV burdens in cranial meningiomas NC_000020.10 - 35809783 Apr 27, 2021 (155)
126 Qatari NC_000020.10 - 35809783 Apr 27, 2020 (154)
127 SGDP_PRJ NC_000020.10 - 35809783 Apr 27, 2020 (154)
128 Siberian NC_000020.10 - 35809783 Apr 27, 2020 (154)
129 8.3KJPN NC_000020.10 - 35809783 Apr 27, 2021 (155)
130 14KJPN NC_000020.11 - 37181380 Oct 16, 2022 (156)
131 TopMed NC_000020.11 - 37181380 Apr 27, 2021 (155)
132 UK 10K study - Twins NC_000020.10 - 35809783 Oct 12, 2018 (152)
133 ALFA NC_000020.11 - 37181380 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)
rs7346823 Aug 26, 2003 (117)
rs60189824 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
11339198208 NC_000020.11:37181379:T:A NC_000020.11:37181379:T:A (self)
344219, ss91691045, ss111944598, ss113302887, ss169541571, ss172061579, ss203881702, ss255619320, ss410939677, ss1698760450, ss1713692046, ss3639175631, ss3639891334, ss3643307503, ss3643939035, ss3847666327 NC_000020.9:35243196:T:C NC_000020.11:37181379:T:C (self)
78160763, 43263374, 30574811, 5663328, 19274657, 46527513, 16663026, 1103469, 299122, 20257302, 41082836, 10970316, 87542316, 43263374, ss228340602, ss237823496, ss491560507, ss537332059, ss566234584, ss662116453, ss780685701, ss783359201, ss833037302, ss833628130, ss994701310, ss1082189151, ss1364699775, ss1429048868, ss1579498389, ss1638739337, ss1681733370, ss1752384720, ss1809492823, ss1917946907, ss1938215380, ss1946551557, ss1959913801, ss1966654326, ss2029888239, ss2158453962, ss2633795141, ss2967230670, ss2985214538, ss3018157070, ss3022117506, ss3352503282, ss3628386435, ss3628386436, ss3634834608, ss3638344601, ss3640541906, ss3644781942, ss3652572581, ss3653983364, ss3684836563, ss3743378161, ss3744493418, ss3745134505, ss3758618432, ss3772630702, ss3788643436, ss3793535804, ss3798422711, ss3835663082, ss3841457190, ss3889065856, ss3939350119, ss3984749552, ss3985877542, ss5229573009, ss5237604982, ss5316005625, ss5437290688, ss5512211589, ss5624484860, ss5663179296, ss5845670002, ss5847505283, ss5958091117, ss5979615372 NC_000020.10:35809782:T:C NC_000020.11:37181379:T:C (self)
102694964, 2114613, 38625275, 1268300, 123190050, 363115106, 11339198208, ss2242606598, ss3028776767, ss3706911031, ss3725913731, ss3772046831, ss3821784894, ss3846969831, ss3982247274, ss5088006161, ss5308739043, ss5501021108, ss5615169029, ss5789352946, ss5818030547, ss5853132688, ss5923353583 NC_000020.11:37181379:T:C NC_000020.11:37181379:T:C (self)
ss11109031 NT_011362.8:862697:T:C NC_000020.11:37181379:T:C (self)
ss8337737, ss67436183, ss67790878, ss68247237, ss70855091, ss71441323, ss75762517, ss84450793, ss154349739, ss159526041, ss173966519 NT_011362.10:6005874:T:C NC_000020.11:37181379:T:C (self)
11339198208 NC_000020.11:37181379:T:G NC_000020.11:37181379: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.

1 citation for rs6031882
PMID Title Author Year Journal
19668339 Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. Potkin SG et al. 2009 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