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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.

rs10745877

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr12:99880552 (GRCh38.p13) 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
G=0.353757 (93636/264690, TOPMED)
G=0.342532 (47938/139952, GnomAD)
G=0.35933 (24611/68492, ALFA) (+ 17 more)
A=0.04797 (804/16760, 8.3KJPN)
G=0.4942 (2475/5008, 1000G)
G=0.3712 (1663/4480, Estonian)
G=0.3358 (1294/3854, ALSPAC)
G=0.3428 (1271/3708, TWINSUK)
A=0.0601 (176/2930, KOREAN)
A=0.4741 (988/2084, HGDP_Stanford)
G=0.4512 (851/1886, HapMap)
G=0.337 (336/998, GoNL)
A=0.069 (55/792, PRJEB37584)
G=0.423 (254/600, NorthernSweden)
G=0.261 (96/368, SGDP_PRJ)
G=0.250 (54/216, Qatari)
A=0.061 (13/214, Vietnamese)
G=0.21 (12/58, Ancient Sardinia)
G=0.25 (10/40, GENOME_DK)
G=0.34 (13/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANKS1B : Intron Variant
Publications
1 citation
Genomic View
See rs on genome
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.p13 chr 12 NC_000012.12:g.99880552G>A
GRCh37.p13 chr 12 NC_000012.11:g.100274330G>A
ANKS1B RefSeqGene NG_029860.2:g.109103C>T
Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANKS1B transcript variant 16 NM_001352185.1:c.135-5516…

NM_001352185.1:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant 13 NM_001352186.2:c.135-5516…

NM_001352186.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant 15 NM_001352187.1:c.135-5516…

NM_001352187.1:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant 14 NM_001352188.1:c.135-5516…

NM_001352188.1:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant 1 NM_152788.4:c.135-55163C>T N/A Intron Variant
ANKS1B transcript variant 4 NM_001204065.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 5 NM_001204066.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 6 NM_001204067.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 7 NM_001204068.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 8 NM_001204069.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 9 NM_001204070.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 10 NM_001204079.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 11 NM_001204080.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 12 NM_001204081.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 24 NM_001352189.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 25 NM_001352190.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 34 NM_001352191.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 29 NM_001352192.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 28 NM_001352193.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 32 NM_001352194.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 19 NM_001352195.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 20 NM_001352196.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 26 NM_001352197.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 17 NM_001352198.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 30 NM_001352199.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 22 NM_001352200.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 33 NM_001352201.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 23 NM_001352202.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 31 NM_001352203.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 21 NM_001352204.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 18 NM_001352205.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 27 NM_001352206.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 39 NM_001352207.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 36 NM_001352208.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 40 NM_001352209.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 43 NM_001352210.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 44 NM_001352211.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 45 NM_001352212.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 50 NM_001352213.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 51 NM_001352214.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 52 NM_001352216.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 49 NM_001352217.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 46 NM_001352218.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 35 NM_001352219.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 47 NM_001352220.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 41 NM_001352221.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 37 NM_001352222.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 38 NM_001352223.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 48 NM_001352224.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 42 NM_001352225.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 3 NM_020140.4:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 2 NM_181670.4:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X9 XM_005269029.5:c.135-5516…

XM_005269029.5:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X1 XM_006719504.4:c.135-5516…

XM_006719504.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X2 XM_006719505.4:c.135-5516…

XM_006719505.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X4 XM_006719507.4:c.135-5516…

XM_006719507.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X7 XM_006719508.4:c.135-5516…

XM_006719508.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X12 XM_006719510.4:c.135-5516…

XM_006719510.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X14 XM_006719512.4:c.135-5516…

XM_006719512.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X15 XM_006719513.4:c.135-5516…

XM_006719513.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X17 XM_006719514.4:c.135-5516…

XM_006719514.4:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X10 XM_011538571.3:c.135-5516…

XM_011538571.3:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X3 XM_017019652.2:c.135-5516…

XM_017019652.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X5 XM_017019653.2:c.135-5516…

XM_017019653.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X6 XM_017019654.2:c.135-5516…

XM_017019654.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X8 XM_017019655.2:c.135-5516…

XM_017019655.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X11 XM_017019656.2:c.135-5516…

XM_017019656.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X13 XM_017019657.2:c.135-5516…

XM_017019657.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X16 XM_017019658.2:c.135-5516…

XM_017019658.2:c.135-55163C>T

N/A Intron Variant
ANKS1B transcript variant X21 XM_024449062.1:c.-1222-55…

XM_024449062.1:c.-1222-55163C>T

N/A Intron Variant
ANKS1B transcript variant X19 XM_024449060.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X20 XM_024449061.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X22 XM_024449063.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X23 XM_024449064.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X24 XM_024449065.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X25 XM_024449066.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X26 XM_024449067.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X27 XM_024449068.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X28 XM_024449069.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X29 XM_024449070.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X18 XR_001748815.2: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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 68492 G=0.35933 A=0.64067
European Sub 56108 G=0.35063 A=0.64937
African Sub 4340 G=0.2297 A=0.7703
African Others Sub 170 G=0.153 A=0.847
African American Sub 4170 G=0.2329 A=0.7671
Asian Sub 190 G=0.900 A=0.100
East Asian Sub 148 G=0.939 A=0.061
Other Asian Sub 42 G=0.76 A=0.24
Latin American 1 Sub 254 G=0.295 A=0.705
Latin American 2 Sub 1232 G=0.5073 A=0.4927
South Asian Sub 4954 G=0.5145 A=0.4855
Other Sub 1414 G=0.3685 A=0.6315


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 G=0.353757 A=0.646243
gnomAD - Genomes Global Study-wide 139952 G=0.342532 A=0.657468
gnomAD - Genomes European Sub 75804 G=0.35564 A=0.64436
gnomAD - Genomes African Sub 41940 G=0.23174 A=0.76826
gnomAD - Genomes American Sub 13630 G=0.45172 A=0.54828
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=0.4171 A=0.5829
gnomAD - Genomes East Asian Sub 3120 G=0.9253 A=0.0747
gnomAD - Genomes Other Sub 2142 G=0.3889 A=0.6111
8.3KJPN JAPANESE Study-wide 16760 G=0.95203 A=0.04797
1000Genomes Global Study-wide 5008 G=0.4942 A=0.5058
1000Genomes African Sub 1322 G=0.1884 A=0.8116
1000Genomes East Asian Sub 1008 G=0.9306 A=0.0694
1000Genomes Europe Sub 1006 G=0.3748 A=0.6252
1000Genomes South Asian Sub 978 G=0.574 A=0.426
1000Genomes American Sub 694 G=0.504 A=0.496
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3712 A=0.6288
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3358 A=0.6642
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3428 A=0.6572
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9399 A=0.0601
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.5259 A=0.4741
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.917 A=0.083
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.486 A=0.514
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.289 A=0.711
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.353 A=0.647
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.273 A=0.727
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.796 A=0.204
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.17 A=0.83
HapMap Global Study-wide 1886 G=0.4512 A=0.5488
HapMap American Sub 766 G=0.521 A=0.479
HapMap African Sub 690 G=0.213 A=0.787
HapMap Asian Sub 254 G=0.945 A=0.055
HapMap Europe Sub 176 G=0.369 A=0.631
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.337 A=0.663
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.931 A=0.069
CNV burdens in cranial meningiomas CRM Sub 792 G=0.931 A=0.069
Northern Sweden ACPOP Study-wide 600 G=0.423 A=0.577
SGDP_PRJ Global Study-wide 368 G=0.261 A=0.739
Qatari Global Study-wide 216 G=0.250 A=0.750
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.939 A=0.061
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 58 G=0.21 A=0.79
The Danish reference pan genome Danish Study-wide 40 G=0.25 A=0.75
Siberian Global Study-wide 38 G=0.34 A=0.66
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.p13 chr 12 NC_000012.12:g.99880552= NC_000012.12:g.99880552G>A
GRCh37.p13 chr 12 NC_000012.11:g.100274330= NC_000012.11:g.100274330G>A
ANKS1B RefSeqGene NG_029860.2:g.109103= NG_029860.2:g.109103C>T
ANKS1B transcript variant 16 NM_001352185.1:c.135-55163= NM_001352185.1:c.135-55163C>T
ANKS1B transcript variant 13 NM_001352186.2:c.135-55163= NM_001352186.2:c.135-55163C>T
ANKS1B transcript variant 15 NM_001352187.1:c.135-55163= NM_001352187.1:c.135-55163C>T
ANKS1B transcript variant 14 NM_001352188.1:c.135-55163= NM_001352188.1:c.135-55163C>T
ANKS1B transcript variant 1 NM_152788.4:c.135-55163= NM_152788.4:c.135-55163C>T
ANKS1B transcript variant X1 XM_005269028.1:c.135-55163= XM_005269028.1:c.135-55163C>T
ANKS1B transcript variant X2 XM_005269029.1:c.135-55163= XM_005269029.1:c.135-55163C>T
ANKS1B transcript variant X9 XM_005269029.5:c.135-55163= XM_005269029.5:c.135-55163C>T
ANKS1B transcript variant X3 XM_005269030.1:c.135-55163= XM_005269030.1:c.135-55163C>T
ANKS1B transcript variant X1 XM_006719504.4:c.135-55163= XM_006719504.4:c.135-55163C>T
ANKS1B transcript variant X2 XM_006719505.4:c.135-55163= XM_006719505.4:c.135-55163C>T
ANKS1B transcript variant X4 XM_006719507.4:c.135-55163= XM_006719507.4:c.135-55163C>T
ANKS1B transcript variant X7 XM_006719508.4:c.135-55163= XM_006719508.4:c.135-55163C>T
ANKS1B transcript variant X12 XM_006719510.4:c.135-55163= XM_006719510.4:c.135-55163C>T
ANKS1B transcript variant X14 XM_006719512.4:c.135-55163= XM_006719512.4:c.135-55163C>T
ANKS1B transcript variant X15 XM_006719513.4:c.135-55163= XM_006719513.4:c.135-55163C>T
ANKS1B transcript variant X17 XM_006719514.4:c.135-55163= XM_006719514.4:c.135-55163C>T
ANKS1B transcript variant X10 XM_011538571.3:c.135-55163= XM_011538571.3:c.135-55163C>T
ANKS1B transcript variant X3 XM_017019652.2:c.135-55163= XM_017019652.2:c.135-55163C>T
ANKS1B transcript variant X5 XM_017019653.2:c.135-55163= XM_017019653.2:c.135-55163C>T
ANKS1B transcript variant X6 XM_017019654.2:c.135-55163= XM_017019654.2:c.135-55163C>T
ANKS1B transcript variant X8 XM_017019655.2:c.135-55163= XM_017019655.2:c.135-55163C>T
ANKS1B transcript variant X11 XM_017019656.2:c.135-55163= XM_017019656.2:c.135-55163C>T
ANKS1B transcript variant X13 XM_017019657.2:c.135-55163= XM_017019657.2:c.135-55163C>T
ANKS1B transcript variant X16 XM_017019658.2:c.135-55163= XM_017019658.2:c.135-55163C>T
ANKS1B transcript variant X21 XM_024449062.1:c.-1222-55163= XM_024449062.1:c.-1222-55163C>T
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#.

91 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15830064 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss16565272 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss17452590 Feb 27, 2004 (120)
4 SC_SNP ss18742912 Feb 27, 2004 (120)
5 SC_SNP ss18962279 Feb 27, 2004 (120)
6 SSAHASNP ss20927892 Apr 05, 2004 (121)
7 ABI ss38861930 Mar 14, 2006 (126)
8 ILLUMINA ss66539854 Nov 29, 2006 (127)
9 ILLUMINA ss66897806 Nov 29, 2006 (127)
10 ILLUMINA ss67009582 Nov 29, 2006 (127)
11 ILLUMINA ss70377770 May 16, 2007 (127)
12 ILLUMINA ss70493882 May 24, 2008 (130)
13 ILLUMINA ss71018775 May 16, 2007 (127)
14 ILLUMINA ss75744979 Dec 06, 2007 (129)
15 HGSV ss77829392 Dec 06, 2007 (129)
16 KRIBB_YJKIM ss84986587 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss89347543 Mar 24, 2008 (129)
18 HUMANGENOME_JCVI ss97334935 Feb 04, 2009 (130)
19 1000GENOMES ss112388937 Jan 25, 2009 (130)
20 1000GENOMES ss114004684 Jan 25, 2009 (130)
21 ILLUMINA-UK ss119676330 Dec 01, 2009 (131)
22 ILLUMINA ss121377260 Dec 01, 2009 (131)
23 ENSEMBL ss133328141 Dec 01, 2009 (131)
24 ENSEMBL ss137340232 Dec 01, 2009 (131)
25 ILLUMINA ss152803900 Dec 01, 2009 (131)
26 ILLUMINA ss159138763 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss168675774 Jul 04, 2010 (132)
28 ILLUMINA ss169586210 Jul 04, 2010 (132)
29 ILLUMINA ss170439930 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss170754938 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss175250453 Jul 04, 2010 (132)
32 BUSHMAN ss198602214 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss208260550 Jul 04, 2010 (132)
34 1000GENOMES ss225922454 Jul 14, 2010 (132)
35 1000GENOMES ss236060617 Jul 15, 2010 (132)
36 1000GENOMES ss242593176 Jul 15, 2010 (132)
37 BL ss255319216 May 09, 2011 (134)
38 GMI ss286615856 Apr 25, 2013 (138)
39 PJP ss291326542 May 09, 2011 (134)
40 ILLUMINA ss536627803 Sep 08, 2015 (146)
41 TISHKOFF ss563358835 Apr 25, 2013 (138)
42 SSMP ss658939791 Apr 25, 2013 (138)
43 ILLUMINA ss825347381 Apr 01, 2015 (144)
44 ILLUMINA ss832651415 Jul 13, 2019 (153)
45 EVA-GONL ss989880292 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1078714414 Aug 21, 2014 (142)
47 1000GENOMES ss1346337317 Aug 21, 2014 (142)
48 DDI ss1427032547 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1576477876 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1629281141 Apr 01, 2015 (144)
51 EVA_DECODE ss1641981980 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1672275174 Apr 01, 2015 (144)
53 EVA_SVP ss1713351850 Apr 01, 2015 (144)
54 HAMMER_LAB ss1807386798 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1933235281 Feb 12, 2016 (147)
56 GENOMED ss1967665609 Jul 19, 2016 (147)
57 JJLAB ss2027373079 Sep 14, 2016 (149)
58 USC_VALOUEV ss2155719194 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2192555098 Dec 20, 2016 (150)
60 TOPMED ss2356571382 Dec 20, 2016 (150)
61 GRF ss2700075989 Nov 08, 2017 (151)
62 GNOMAD ss2914322030 Nov 08, 2017 (151)
63 SWEGEN ss3010225319 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3027497308 Nov 08, 2017 (151)
65 TOPMED ss3179695727 Nov 08, 2017 (151)
66 CSHL ss3350215554 Nov 08, 2017 (151)
67 ILLUMINA ss3626949986 Oct 12, 2018 (152)
68 ILLUMINA ss3637981703 Oct 12, 2018 (152)
69 ILLUMINA ss3639004244 Oct 12, 2018 (152)
70 ILLUMINA ss3639504887 Oct 12, 2018 (152)
71 ILLUMINA ss3642973712 Oct 12, 2018 (152)
72 URBANLAB ss3649909101 Oct 12, 2018 (152)
73 EGCUT_WGS ss3677519619 Jul 13, 2019 (153)
74 EVA_DECODE ss3694314908 Jul 13, 2019 (153)
75 ACPOP ss3739315322 Jul 13, 2019 (153)
76 EVA ss3750874459 Jul 13, 2019 (153)
77 PACBIO ss3787315703 Jul 13, 2019 (153)
78 PACBIO ss3792402082 Jul 13, 2019 (153)
79 PACBIO ss3797285132 Jul 13, 2019 (153)
80 KHV_HUMAN_GENOMES ss3816208029 Jul 13, 2019 (153)
81 EVA ss3833289227 Apr 27, 2020 (154)
82 EVA ss3840217674 Apr 27, 2020 (154)
83 EVA ss3845705855 Apr 27, 2020 (154)
84 HGDP ss3847461569 Apr 27, 2020 (154)
85 SGDP_PRJ ss3878957225 Apr 27, 2020 (154)
86 KRGDB ss3927677633 Apr 27, 2020 (154)
87 EVA ss3984671916 Apr 27, 2021 (155)
88 EVA ss3985609630 Apr 27, 2021 (155)
89 EVA ss4017606004 Apr 27, 2021 (155)
90 TOPMED ss4930136453 Apr 27, 2021 (155)
91 TOMMO_GENOMICS ss5207823323 Apr 27, 2021 (155)
92 1000Genomes NC_000012.11 - 100274330 Oct 12, 2018 (152)
93 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 100274330 Oct 12, 2018 (152)
94 Genetic variation in the Estonian population NC_000012.11 - 100274330 Oct 12, 2018 (152)
95 The Danish reference pan genome NC_000012.11 - 100274330 Apr 27, 2020 (154)
96 gnomAD - Genomes NC_000012.12 - 99880552 Apr 27, 2021 (155)
97 Genome of the Netherlands Release 5 NC_000012.11 - 100274330 Apr 27, 2020 (154)
98 HGDP-CEPH-db Supplement 1 NC_000012.10 - 98798461 Apr 27, 2020 (154)
99 HapMap NC_000012.12 - 99880552 Apr 27, 2020 (154)
100 KOREAN population from KRGDB NC_000012.11 - 100274330 Apr 27, 2020 (154)
101 Northern Sweden NC_000012.11 - 100274330 Jul 13, 2019 (153)
102 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 100274330 Apr 27, 2021 (155)
103 CNV burdens in cranial meningiomas NC_000012.11 - 100274330 Apr 27, 2021 (155)
104 Qatari NC_000012.11 - 100274330 Apr 27, 2020 (154)
105 SGDP_PRJ NC_000012.11 - 100274330 Apr 27, 2020 (154)
106 Siberian NC_000012.11 - 100274330 Apr 27, 2020 (154)
107 8.3KJPN NC_000012.11 - 100274330 Apr 27, 2021 (155)
108 TopMed NC_000012.12 - 99880552 Apr 27, 2021 (155)
109 UK 10K study - Twins NC_000012.11 - 100274330 Oct 12, 2018 (152)
110 A Vietnamese Genetic Variation Database NC_000012.11 - 100274330 Jul 13, 2019 (153)
111 ALFA NC_000012.12 - 99880552 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)
rs57811417 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77829392, ss3639004244, ss3639504887 NC_000012.9:98776797:G:A NC_000012.12:99880551:G:A (self)
139461, ss89347543, ss112388937, ss114004684, ss119676330, ss168675774, ss170754938, ss175250453, ss198602214, ss208260550, ss255319216, ss286615856, ss291326542, ss825347381, ss1641981980, ss1713351850, ss3642973712, ss3847461569 NC_000012.10:98798460:G:A NC_000012.12:99880551:G:A (self)
59136854, 32835580, 23257867, 3096908, 14650764, 34855027, 12600187, 835557, 221411, 15277211, 30974205, 8235548, 65792630, 32835580, 7289332, ss225922454, ss236060617, ss242593176, ss536627803, ss563358835, ss658939791, ss832651415, ss989880292, ss1078714414, ss1346337317, ss1427032547, ss1576477876, ss1629281141, ss1672275174, ss1807386798, ss1933235281, ss1967665609, ss2027373079, ss2155719194, ss2356571382, ss2700075989, ss2914322030, ss3010225319, ss3350215554, ss3626949986, ss3637981703, ss3677519619, ss3739315322, ss3750874459, ss3787315703, ss3792402082, ss3797285132, ss3833289227, ss3840217674, ss3878957225, ss3927677633, ss3984671916, ss3985609630, ss4017606004, ss5207823323 NC_000012.11:100274329:G:A NC_000012.12:99880551:G:A (self)
417141618, 889185, 91154761, 145682110, 11135567421, ss2192555098, ss3027497308, ss3179695727, ss3649909101, ss3694314908, ss3816208029, ss3845705855, ss4930136453 NC_000012.12:99880551:G:A NC_000012.12:99880551:G:A (self)
ss15830064, ss16565272, ss17452590, ss18742912, ss18962279, ss20927892 NT_019546.15:23756520:G:A NC_000012.12:99880551:G:A (self)
ss38861930, ss66539854, ss66897806, ss67009582, ss70377770, ss70493882, ss71018775, ss75744979, ss84986587, ss97334935, ss121377260, ss133328141, ss137340232, ss152803900, ss159138763, ss169586210, ss170439930 NT_029419.12:62417635:G:A NC_000012.12:99880551: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.

1 citation for rs10745877
PMID Title Author Year Journal
22665367 Systematic evaluation of apoptotic pathway gene polymorphisms and lung cancer risk. Lin J et al. 2012 Carcinogenesis
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.post596+ae089ad