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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.

rs1000031

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:48835070 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.375998 (117158/311592, ALFA)
G=0.492017 (130232/264690, TOPMED)
A=0.490018 (68679/140156, GnomAD) (+ 23 more)
G=0.41620 (32753/78696, PAGE_STUDY)
A=0.33297 (9409/28258, 14KJPN)
A=0.33097 (5547/16760, 8.3KJPN)
G=0.4774 (3057/6404, 1000G_30x)
G=0.4836 (2422/5008, 1000G)
A=0.2783 (1247/4480, Estonian)
A=0.3368 (1298/3854, ALSPAC)
A=0.3420 (1268/3708, TWINSUK)
A=0.3925 (1150/2930, KOREAN)
A=0.4362 (909/2084, HGDP_Stanford)
G=0.4244 (803/1892, HapMap)
A=0.3914 (717/1832, Korea1K)
A=0.4133 (467/1130, Daghestan)
A=0.288 (287/998, GoNL)
A=0.349 (271/776, PRJEB37584)
A=0.383 (240/626, Chileans)
A=0.273 (164/600, NorthernSweden)
G=0.327 (115/352, SGDP_PRJ)
A=0.431 (93/216, Qatari)
A=0.292 (62/212, Vietnamese)
G=0.43 (32/74, Ancient Sardinia)
A=0.30 (12/40, GENOME_DK)
G=0.39 (11/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CTIF : Intron Variant
LOC105372105 : Intron 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 311592 G=0.624002 A=0.375998
European Sub 270832 G=0.646175 A=0.353825
African Sub 11266 G=0.18418 A=0.81582
African Others Sub 414 G=0.097 A=0.903
African American Sub 10852 G=0.18752 A=0.81248
Asian Sub 3984 G=0.6413 A=0.3587
East Asian Sub 3206 G=0.6145 A=0.3855
Other Asian Sub 778 G=0.752 A=0.248
Latin American 1 Sub 1278 G=0.4922 A=0.5078
Latin American 2 Sub 9384 G=0.5729 A=0.4271
South Asian Sub 5238 G=0.5842 A=0.4158
Other Sub 9610 G=0.5967 A=0.4033


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 311592 G=0.624002 A=0.375998
Allele Frequency Aggregator European Sub 270832 G=0.646175 A=0.353825
Allele Frequency Aggregator African Sub 11266 G=0.18418 A=0.81582
Allele Frequency Aggregator Other Sub 9610 G=0.5967 A=0.4033
Allele Frequency Aggregator Latin American 2 Sub 9384 G=0.5729 A=0.4271
Allele Frequency Aggregator South Asian Sub 5238 G=0.5842 A=0.4158
Allele Frequency Aggregator Asian Sub 3984 G=0.6413 A=0.3587
Allele Frequency Aggregator Latin American 1 Sub 1278 G=0.4922 A=0.5078
TopMed Global Study-wide 264690 G=0.492017 A=0.507983
gnomAD - Genomes Global Study-wide 140156 G=0.509982 A=0.490018
gnomAD - Genomes European Sub 75884 G=0.66706 A=0.33294
gnomAD - Genomes African Sub 42010 G=0.19019 A=0.80981
gnomAD - Genomes American Sub 13660 G=0.55388 A=0.44612
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.5891 A=0.4109
gnomAD - Genomes East Asian Sub 3130 G=0.7061 A=0.2939
gnomAD - Genomes Other Sub 2150 G=0.5279 A=0.4721
The PAGE Study Global Study-wide 78696 G=0.41620 A=0.58380
The PAGE Study AfricanAmerican Sub 32514 G=0.20634 A=0.79366
The PAGE Study Mexican Sub 10808 G=0.55246 A=0.44754
The PAGE Study Asian Sub 8318 G=0.6770 A=0.3230
The PAGE Study PuertoRican Sub 7918 G=0.5090 A=0.4910
The PAGE Study NativeHawaiian Sub 4534 G=0.7029 A=0.2971
The PAGE Study Cuban Sub 4230 G=0.4983 A=0.5017
The PAGE Study Dominican Sub 3826 G=0.3596 A=0.6404
The PAGE Study CentralAmerican Sub 2450 G=0.5249 A=0.4751
The PAGE Study SouthAmerican Sub 1982 G=0.6080 A=0.3920
The PAGE Study NativeAmerican Sub 1260 G=0.5825 A=0.4175
The PAGE Study SouthAsian Sub 856 G=0.603 A=0.397
14KJPN JAPANESE Study-wide 28258 G=0.66703 A=0.33297
8.3KJPN JAPANESE Study-wide 16760 G=0.66903 A=0.33097
1000Genomes_30x Global Study-wide 6404 G=0.4774 A=0.5226
1000Genomes_30x African Sub 1786 G=0.0829 A=0.9171
1000Genomes_30x Europe Sub 1266 G=0.6382 A=0.3618
1000Genomes_30x South Asian Sub 1202 G=0.5782 A=0.4218
1000Genomes_30x East Asian Sub 1170 G=0.6932 A=0.3068
1000Genomes_30x American Sub 980 G=0.607 A=0.393
1000Genomes Global Study-wide 5008 G=0.4836 A=0.5164
1000Genomes African Sub 1322 G=0.0794 A=0.9206
1000Genomes East Asian Sub 1008 G=0.6885 A=0.3115
1000Genomes Europe Sub 1006 G=0.6342 A=0.3658
1000Genomes South Asian Sub 978 G=0.582 A=0.418
1000Genomes American Sub 694 G=0.599 A=0.401
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7217 A=0.2783
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6632 A=0.3368
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6580 A=0.3420
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6075 A=0.3925
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.5638 A=0.4362
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.702 A=0.298
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.592 A=0.408
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.529 A=0.471
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.669 A=0.331
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.066 A=0.934
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.648 A=0.352
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.62 A=0.38
HapMap Global Study-wide 1892 G=0.4244 A=0.5756
HapMap American Sub 770 G=0.582 A=0.418
HapMap African Sub 692 G=0.126 A=0.874
HapMap Asian Sub 254 G=0.669 A=0.331
HapMap Europe Sub 176 G=0.557 A=0.443
Korean Genome Project KOREAN Study-wide 1832 G=0.6086 A=0.3914
Genome-wide autozygosity in Daghestan Global Study-wide 1130 G=0.5867 A=0.4133
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.585 A=0.415
Genome-wide autozygosity in Daghestan Near_East Sub 142 G=0.507 A=0.493
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.664 A=0.336
Genome-wide autozygosity in Daghestan Europe Sub 106 G=0.632 A=0.368
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.60 A=0.40
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.50 A=0.50
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.712 A=0.288
CNV burdens in cranial meningiomas Global Study-wide 776 G=0.651 A=0.349
CNV burdens in cranial meningiomas CRM Sub 776 G=0.651 A=0.349
Chileans Chilean Study-wide 626 G=0.617 A=0.383
Northern Sweden ACPOP Study-wide 600 G=0.727 A=0.273
SGDP_PRJ Global Study-wide 352 G=0.327 A=0.673
Qatari Global Study-wide 216 G=0.569 A=0.431
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.708 A=0.292
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 G=0.43 A=0.57
The Danish reference pan genome Danish Study-wide 40 G=0.70 A=0.30
Siberian Global Study-wide 28 G=0.39 A=0.61
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 18 NC_000018.10:g.48835070G>A
GRCh37.p13 chr 18 NC_000018.9:g.46361441G>A
GRCh38.p14 chr 18 fix patch HG2213_PATCH NW_013171814.1:g.324340G>A
Gene: CTIF, cap binding complex dependent translation initiation factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CTIF transcript variant 2 NM_001142397.2:c.1533+176…

NM_001142397.2:c.1533+17694G>A

N/A Intron Variant
CTIF transcript variant 1 NM_014772.3:c.1527+17694G…

NM_014772.3:c.1527+17694G>A

N/A Intron Variant
CTIF transcript variant X3 XM_005258392.5:c.1581+176…

XM_005258392.5:c.1581+17694G>A

N/A Intron Variant
CTIF transcript variant X1 XM_006722583.4:c.1581+176…

XM_006722583.4:c.1581+17694G>A

N/A Intron Variant
CTIF transcript variant X7 XM_006722586.4:c.1575+176…

XM_006722586.4:c.1575+17694G>A

N/A Intron Variant
CTIF transcript variant X10 XM_006722587.4:c.1533+176…

XM_006722587.4:c.1533+17694G>A

N/A Intron Variant
CTIF transcript variant X14 XM_006722588.5:c.1533+176…

XM_006722588.5:c.1533+17694G>A

N/A Intron Variant
CTIF transcript variant X19 XM_011526278.4:c.1458+176…

XM_011526278.4:c.1458+17694G>A

N/A Intron Variant
CTIF transcript variant X15 XM_011526279.3:c.1527+176…

XM_011526279.3:c.1527+17694G>A

N/A Intron Variant
CTIF transcript variant X2 XM_017026100.2:c.1581+176…

XM_017026100.2:c.1581+17694G>A

N/A Intron Variant
CTIF transcript variant X5 XM_017026101.2:c.1581+176…

XM_017026101.2:c.1581+17694G>A

N/A Intron Variant
CTIF transcript variant X21 XM_017026102.2:c.1533+176…

XM_017026102.2:c.1533+17694G>A

N/A Intron Variant
CTIF transcript variant X4 XM_047437960.1:c.1581+176…

XM_047437960.1:c.1581+17694G>A

N/A Intron Variant
CTIF transcript variant X6 XM_047437961.1:c.1581+176…

XM_047437961.1:c.1581+17694G>A

N/A Intron Variant
CTIF transcript variant X20 XM_047437962.1:c.1581+176…

XM_047437962.1:c.1581+17694G>A

N/A Intron Variant
CTIF transcript variant X8 XM_047437963.1:c.1575+176…

XM_047437963.1:c.1575+17694G>A

N/A Intron Variant
CTIF transcript variant X9 XM_047437964.1:c.1575+176…

XM_047437964.1:c.1575+17694G>A

N/A Intron Variant
CTIF transcript variant X11 XM_047437965.1:c.1533+176…

XM_047437965.1:c.1533+17694G>A

N/A Intron Variant
CTIF transcript variant X12 XM_047437966.1:c.1533+176…

XM_047437966.1:c.1533+17694G>A

N/A Intron Variant
CTIF transcript variant X13 XM_047437967.1:c.1533+176…

XM_047437967.1:c.1533+17694G>A

N/A Intron Variant
CTIF transcript variant X22 XM_047437968.1:c.1527+176…

XM_047437968.1:c.1527+17694G>A

N/A Intron Variant
CTIF transcript variant X16 XM_047437969.1:c.1527+176…

XM_047437969.1:c.1527+17694G>A

N/A Intron Variant
CTIF transcript variant X17 XM_047437970.1:c.1527+176…

XM_047437970.1:c.1527+17694G>A

N/A Intron Variant
CTIF transcript variant X18 XM_047437971.1:c.1527+176…

XM_047437971.1:c.1527+17694G>A

N/A Intron Variant
Gene: LOC105372105, uncharacterized LOC105372105 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105372105 transcript variant X2 XR_007066459.1:n. N/A Intron Variant
LOC105372105 transcript variant X1 XR_935449.3:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 18 NC_000018.10:g.48835070= NC_000018.10:g.48835070G>A
GRCh37.p13 chr 18 NC_000018.9:g.46361441= NC_000018.9:g.46361441G>A
GRCh38.p14 chr 18 fix patch HG2213_PATCH NW_013171814.1:g.324340= NW_013171814.1:g.324340G>A
CTIF transcript variant 2 NM_001142397.1:c.1533+17694= NM_001142397.1:c.1533+17694G>A
CTIF transcript variant 2 NM_001142397.2:c.1533+17694= NM_001142397.2:c.1533+17694G>A
CTIF transcript variant 1 NM_014772.2:c.1527+17694= NM_014772.2:c.1527+17694G>A
CTIF transcript variant 1 NM_014772.3:c.1527+17694= NM_014772.3:c.1527+17694G>A
CTIF transcript variant X1 XM_005258392.1:c.1581+17694= XM_005258392.1:c.1581+17694G>A
CTIF transcript variant X3 XM_005258392.5:c.1581+17694= XM_005258392.5:c.1581+17694G>A
CTIF transcript variant X1 XM_006722583.4:c.1581+17694= XM_006722583.4:c.1581+17694G>A
CTIF transcript variant X7 XM_006722586.4:c.1575+17694= XM_006722586.4:c.1575+17694G>A
CTIF transcript variant X10 XM_006722587.4:c.1533+17694= XM_006722587.4:c.1533+17694G>A
CTIF transcript variant X14 XM_006722588.5:c.1533+17694= XM_006722588.5:c.1533+17694G>A
CTIF transcript variant X19 XM_011526278.4:c.1458+17694= XM_011526278.4:c.1458+17694G>A
CTIF transcript variant X15 XM_011526279.3:c.1527+17694= XM_011526279.3:c.1527+17694G>A
CTIF transcript variant X2 XM_017026100.2:c.1581+17694= XM_017026100.2:c.1581+17694G>A
CTIF transcript variant X5 XM_017026101.2:c.1581+17694= XM_017026101.2:c.1581+17694G>A
CTIF transcript variant X21 XM_017026102.2:c.1533+17694= XM_017026102.2:c.1533+17694G>A
CTIF transcript variant X4 XM_047437960.1:c.1581+17694= XM_047437960.1:c.1581+17694G>A
CTIF transcript variant X6 XM_047437961.1:c.1581+17694= XM_047437961.1:c.1581+17694G>A
CTIF transcript variant X20 XM_047437962.1:c.1581+17694= XM_047437962.1:c.1581+17694G>A
CTIF transcript variant X8 XM_047437963.1:c.1575+17694= XM_047437963.1:c.1575+17694G>A
CTIF transcript variant X9 XM_047437964.1:c.1575+17694= XM_047437964.1:c.1575+17694G>A
CTIF transcript variant X11 XM_047437965.1:c.1533+17694= XM_047437965.1:c.1533+17694G>A
CTIF transcript variant X12 XM_047437966.1:c.1533+17694= XM_047437966.1:c.1533+17694G>A
CTIF transcript variant X13 XM_047437967.1:c.1533+17694= XM_047437967.1:c.1533+17694G>A
CTIF transcript variant X22 XM_047437968.1:c.1527+17694= XM_047437968.1:c.1527+17694G>A
CTIF transcript variant X16 XM_047437969.1:c.1527+17694= XM_047437969.1:c.1527+17694G>A
CTIF transcript variant X17 XM_047437970.1:c.1527+17694= XM_047437970.1:c.1527+17694G>A
CTIF transcript variant X18 XM_047437971.1:c.1527+17694= XM_047437971.1:c.1527+17694G>A
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#.

140 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1459623 Oct 05, 2000 (86)
2 WI_SSAHASNP ss6832392 Feb 20, 2003 (111)
3 WI_SSAHASNP ss14415371 Dec 05, 2003 (119)
4 PERLEGEN ss24067213 Sep 20, 2004 (123)
5 ILLUMINA ss66631466 Nov 29, 2006 (127)
6 ILLUMINA ss66863625 Nov 29, 2006 (127)
7 ILLUMINA ss66932346 Nov 29, 2006 (127)
8 PERLEGEN ss69214080 May 16, 2007 (127)
9 ILLUMINA ss70355790 May 16, 2007 (127)
10 ILLUMINA ss70458973 May 26, 2008 (130)
11 ILLUMINA ss70979516 May 16, 2007 (127)
12 AFFY ss74828124 Aug 16, 2007 (128)
13 ILLUMINA ss75526792 Dec 06, 2007 (129)
14 AFFY ss76454127 Dec 06, 2007 (129)
15 HGSV ss83188216 Dec 16, 2007 (130)
16 KRIBB_YJKIM ss83650151 Dec 16, 2007 (130)
17 HGSV ss85293844 Dec 16, 2007 (130)
18 BGI ss106544622 Feb 06, 2009 (130)
19 1000GENOMES ss110507509 Jan 24, 2009 (130)
20 1000GENOMES ss114376023 Jan 25, 2009 (130)
21 ILLUMINA-UK ss117870017 Feb 14, 2009 (130)
22 ILLUMINA ss121251284 Dec 01, 2009 (131)
23 ILLUMINA ss152537432 Dec 01, 2009 (131)
24 ILLUMINA ss159102826 Dec 01, 2009 (131)
25 ILLUMINA ss159849780 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss168209260 Jul 04, 2010 (132)
27 ILLUMINA ss169203317 Jul 04, 2010 (132)
28 ILLUMINA ss169484244 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss169771181 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss171781192 Jul 04, 2010 (132)
31 BUSHMAN ss203253300 Jul 04, 2010 (132)
32 1000GENOMES ss227861867 Jul 14, 2010 (132)
33 1000GENOMES ss237467397 Jul 15, 2010 (132)
34 1000GENOMES ss243716020 Jul 15, 2010 (132)
35 BL ss255652821 May 09, 2011 (134)
36 GMI ss282991121 May 04, 2012 (137)
37 GMI ss287283351 Apr 25, 2013 (138)
38 PJP ss292170747 May 09, 2011 (134)
39 ILLUMINA ss479152973 May 04, 2012 (137)
40 ILLUMINA ss479153735 May 04, 2012 (137)
41 ILLUMINA ss479465788 Sep 08, 2015 (146)
42 ILLUMINA ss484377114 May 04, 2012 (137)
43 ILLUMINA ss536563781 Sep 08, 2015 (146)
44 TISHKOFF ss565643515 Apr 25, 2013 (138)
45 SSMP ss661475255 Apr 25, 2013 (138)
46 ILLUMINA ss779053403 Sep 08, 2015 (146)
47 ILLUMINA ss782634853 Sep 08, 2015 (146)
48 ILLUMINA ss783604410 Sep 08, 2015 (146)
49 ILLUMINA ss825325521 Jul 19, 2016 (147)
50 ILLUMINA ss831884917 Sep 08, 2015 (146)
51 ILLUMINA ss832615622 Jul 13, 2019 (153)
52 ILLUMINA ss834516398 Sep 08, 2015 (146)
53 EVA-GONL ss993734074 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1081504127 Aug 21, 2014 (142)
55 1000GENOMES ss1361053541 Aug 21, 2014 (142)
56 HAMMER_LAB ss1397745847 Sep 08, 2015 (146)
57 DDI ss1428217108 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1578405150 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1636888588 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1679882621 Apr 01, 2015 (144)
61 EVA_DECODE ss1697792391 Apr 01, 2015 (144)
62 EVA_SVP ss1713626452 Apr 01, 2015 (144)
63 ILLUMINA ss1752258028 Sep 08, 2015 (146)
64 HAMMER_LAB ss1809053181 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1937200753 Feb 12, 2016 (147)
66 ILLUMINA ss1946502042 Feb 12, 2016 (147)
67 ILLUMINA ss1959804752 Feb 12, 2016 (147)
68 GENOMED ss1968524677 Jul 19, 2016 (147)
69 JJLAB ss2029369951 Sep 14, 2016 (149)
70 USC_VALOUEV ss2157875202 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2221634315 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2629182257 Nov 08, 2017 (151)
73 ILLUMINA ss2633473713 Nov 08, 2017 (151)
74 GRF ss2702462822 Nov 08, 2017 (151)
75 ILLUMINA ss2710868379 Nov 08, 2017 (151)
76 GNOMAD ss2956771422 Nov 08, 2017 (151)
77 SWEGEN ss3016537253 Nov 08, 2017 (151)
78 ILLUMINA ss3021844018 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3028513279 Nov 08, 2017 (151)
80 CSHL ss3352025448 Nov 08, 2017 (151)
81 ILLUMINA ss3625725592 Oct 12, 2018 (152)
82 ILLUMINA ss3627810525 Oct 12, 2018 (152)
83 ILLUMINA ss3631450316 Oct 12, 2018 (152)
84 ILLUMINA ss3633162816 Oct 12, 2018 (152)
85 ILLUMINA ss3633871603 Oct 12, 2018 (152)
86 ILLUMINA ss3634706348 Oct 12, 2018 (152)
87 ILLUMINA ss3635558874 Oct 12, 2018 (152)
88 ILLUMINA ss3636395661 Oct 12, 2018 (152)
89 ILLUMINA ss3637310487 Oct 12, 2018 (152)
90 ILLUMINA ss3638196545 Oct 12, 2018 (152)
91 ILLUMINA ss3639106362 Oct 12, 2018 (152)
92 ILLUMINA ss3639561842 Oct 12, 2018 (152)
93 ILLUMINA ss3640413656 Oct 12, 2018 (152)
94 ILLUMINA ss3641089898 Oct 12, 2018 (152)
95 ILLUMINA ss3641385459 Oct 12, 2018 (152)
96 ILLUMINA ss3643172217 Oct 12, 2018 (152)
97 ILLUMINA ss3644705986 Oct 12, 2018 (152)
98 ILLUMINA ss3652266003 Oct 12, 2018 (152)
99 EGCUT_WGS ss3683379246 Jul 13, 2019 (153)
100 EVA_DECODE ss3701671288 Jul 13, 2019 (153)
101 ILLUMINA ss3725677420 Jul 13, 2019 (153)
102 ACPOP ss3742547600 Jul 13, 2019 (153)
103 ILLUMINA ss3744158812 Jul 13, 2019 (153)
104 ILLUMINA ss3745006496 Jul 13, 2019 (153)
105 EVA ss3755396630 Jul 13, 2019 (153)
106 PAGE_CC ss3771972227 Jul 13, 2019 (153)
107 ILLUMINA ss3772503985 Jul 13, 2019 (153)
108 PACBIO ss3788371579 Jul 13, 2019 (153)
109 PACBIO ss3793302555 Jul 13, 2019 (153)
110 PACBIO ss3798188884 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3820657418 Jul 13, 2019 (153)
112 EVA ss3835171563 Apr 27, 2020 (154)
113 EVA ss3841203007 Apr 27, 2020 (154)
114 EVA ss3846705111 Apr 27, 2020 (154)
115 HGDP ss3847583628 Apr 27, 2020 (154)
116 SGDP_PRJ ss3887032286 Apr 27, 2020 (154)
117 KRGDB ss3936903973 Apr 27, 2020 (154)
118 KOGIC ss3980165145 Apr 27, 2020 (154)
119 EVA ss3984732890 Apr 27, 2021 (155)
120 EVA ss3985826439 Apr 27, 2021 (155)
121 EVA ss4017798540 Apr 27, 2021 (155)
122 TOPMED ss5056968587 Apr 27, 2021 (155)
123 TOMMO_GENOMICS ss5225200936 Apr 27, 2021 (155)
124 1000G_HIGH_COVERAGE ss5305317375 Oct 16, 2022 (156)
125 EVA ss5315933551 Oct 16, 2022 (156)
126 EVA ss5431469919 Oct 16, 2022 (156)
127 HUGCELL_USP ss5498085345 Oct 16, 2022 (156)
128 EVA ss5511939579 Oct 16, 2022 (156)
129 1000G_HIGH_COVERAGE ss5610173283 Oct 16, 2022 (156)
130 SANFORD_IMAGENETICS ss5624414188 Oct 16, 2022 (156)
131 SANFORD_IMAGENETICS ss5661307983 Oct 16, 2022 (156)
132 TOMMO_GENOMICS ss5783001368 Oct 16, 2022 (156)
133 EVA ss5799993675 Oct 16, 2022 (156)
134 YY_MCH ss5817101135 Oct 16, 2022 (156)
135 EVA ss5827552360 Oct 16, 2022 (156)
136 EVA ss5847486591 Oct 16, 2022 (156)
137 EVA ss5852054641 Oct 16, 2022 (156)
138 EVA ss5874111829 Oct 16, 2022 (156)
139 EVA ss5952724530 Oct 16, 2022 (156)
140 EVA ss5979527864 Oct 16, 2022 (156)
141 1000Genomes NC_000018.9 - 46361441 Oct 12, 2018 (152)
142 1000Genomes_30x NC_000018.10 - 48835070 Oct 16, 2022 (156)
143 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 46361441 Oct 12, 2018 (152)
144 Chileans NC_000018.9 - 46361441 Apr 27, 2020 (154)
145 Genome-wide autozygosity in Daghestan NC_000018.8 - 44615439 Apr 27, 2020 (154)
146 Genetic variation in the Estonian population NC_000018.9 - 46361441 Oct 12, 2018 (152)
147 The Danish reference pan genome NC_000018.9 - 46361441 Apr 27, 2020 (154)
148 gnomAD - Genomes NC_000018.10 - 48835070 Apr 27, 2021 (155)
149 Genome of the Netherlands Release 5 NC_000018.9 - 46361441 Apr 27, 2020 (154)
150 HGDP-CEPH-db Supplement 1 NC_000018.8 - 44615439 Apr 27, 2020 (154)
151 HapMap NC_000018.10 - 48835070 Apr 27, 2020 (154)
152 KOREAN population from KRGDB NC_000018.9 - 46361441 Apr 27, 2020 (154)
153 Korean Genome Project NC_000018.10 - 48835070 Apr 27, 2020 (154)
154 Northern Sweden NC_000018.9 - 46361441 Jul 13, 2019 (153)
155 The PAGE Study NC_000018.10 - 48835070 Jul 13, 2019 (153)
156 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000018.9 - 46361441 Apr 27, 2021 (155)
157 CNV burdens in cranial meningiomas NC_000018.9 - 46361441 Apr 27, 2021 (155)
158 Qatari NC_000018.9 - 46361441 Apr 27, 2020 (154)
159 SGDP_PRJ NC_000018.9 - 46361441 Apr 27, 2020 (154)
160 Siberian NC_000018.9 - 46361441 Apr 27, 2020 (154)
161 8.3KJPN NC_000018.9 - 46361441 Apr 27, 2021 (155)
162 14KJPN NC_000018.10 - 48835070 Oct 16, 2022 (156)
163 TopMed NC_000018.10 - 48835070 Apr 27, 2021 (155)
164 UK 10K study - Twins NC_000018.9 - 46361441 Oct 12, 2018 (152)
165 A Vietnamese Genetic Variation Database NC_000018.9 - 46361441 Jul 13, 2019 (153)
166 ALFA NC_000018.10 - 48835070 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)
rs52831670 Sep 21, 2007 (128)
rs61361099 May 26, 2008 (130)
rs386508643 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
215538, 261520, ss83188216, ss85293844, ss110507509, ss114376023, ss117870017, ss168209260, ss169771181, ss171781192, ss203253300, ss255652821, ss282991121, ss287283351, ss292170747, ss479152973, ss825325521, ss1397745847, ss1697792391, ss1713626452, ss3639106362, ss3639561842, ss3643172217, ss3847583628 NC_000018.8:44615438:G:A NC_000018.10:48835069:G:A (self)
74383566, 41213181, 195258, 29117494, 4597099, 18361650, 44081367, 15832465, 1052366, 282442, 19242675, 39049266, 10391556, 83170243, 41213181, 9105118, ss227861867, ss237467397, ss243716020, ss479153735, ss479465788, ss484377114, ss536563781, ss565643515, ss661475255, ss779053403, ss782634853, ss783604410, ss831884917, ss832615622, ss834516398, ss993734074, ss1081504127, ss1361053541, ss1428217108, ss1578405150, ss1636888588, ss1679882621, ss1752258028, ss1809053181, ss1937200753, ss1946502042, ss1959804752, ss1968524677, ss2029369951, ss2157875202, ss2629182257, ss2633473713, ss2702462822, ss2710868379, ss2956771422, ss3016537253, ss3021844018, ss3352025448, ss3625725592, ss3627810525, ss3631450316, ss3633162816, ss3633871603, ss3634706348, ss3635558874, ss3636395661, ss3637310487, ss3638196545, ss3640413656, ss3641089898, ss3641385459, ss3644705986, ss3652266003, ss3683379246, ss3742547600, ss3744158812, ss3745006496, ss3755396630, ss3772503985, ss3788371579, ss3793302555, ss3798188884, ss3835171563, ss3841203007, ss3887032286, ss3936903973, ss3984732890, ss3985826439, ss4017798540, ss5225200936, ss5315933551, ss5431469919, ss5511939579, ss5624414188, ss5661307983, ss5799993675, ss5827552360, ss5847486591, ss5952724530, ss5979527864 NC_000018.9:46361440:G:A NC_000018.10:48835069:G:A (self)
97699218, 524753464, 1603102, 36543146, 1193696, 116838472, 272514250, 4350378491, ss2221634315, ss3028513279, ss3701671288, ss3725677420, ss3771972227, ss3820657418, ss3846705111, ss3980165145, ss5056968587, ss5305317375, ss5498085345, ss5610173283, ss5783001368, ss5817101135, ss5852054641, ss5874111829 NC_000018.10:48835069:G:A NC_000018.10:48835069:G:A (self)
ss14415371 NT_010966.13:27850542:G:A NC_000018.10:48835069:G:A (self)
ss1459623, ss6832392, ss24067213, ss66631466, ss66863625, ss66932346, ss69214080, ss70355790, ss70458973, ss70979516, ss74828124, ss75526792, ss76454127, ss83650151, ss106544622, ss121251284, ss152537432, ss159102826, ss159849780, ss169203317, ss169484244 NT_010966.14:27850542:G:A NC_000018.10:48835069:G:A (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 rs1000031

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