Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs677909

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:86046547 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.278896 (73821/264690, TOPMED)
C=0.275701 (38586/139956, GnomAD)
C=0.31662 (22829/72102, ALFA) (+ 19 more)
C=0.43351 (12250/28258, 14KJPN)
C=0.43030 (7211/16758, 8.3KJPN)
C=0.2976 (1906/6404, 1000G_30x)
C=0.3041 (1523/5008, 1000G)
C=0.3183 (1426/4480, Estonian)
C=0.3220 (1241/3854, ALSPAC)
C=0.3099 (1149/3708, TWINSUK)
C=0.3898 (1142/2930, KOREAN)
C=0.4052 (838/2068, HGDP_Stanford)
C=0.2534 (478/1886, HapMap)
C=0.3941 (722/1832, Korea1K)
C=0.310 (309/998, GoNL)
C=0.348 (209/600, NorthernSweden)
C=0.249 (111/446, SGDP_PRJ)
C=0.394 (85/216, Qatari)
C=0.407 (87/214, Vietnamese)
C=0.28 (16/58, Ancient Sardinia)
C=0.26 (13/50, Siberian)
C=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PICALM : Intron Variant
LOC124902730 : Non Coding Transcript Variant
Publications
2 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 72102 C=0.31662 T=0.68338
European Sub 56078 C=0.32294 T=0.67706
African Sub 5144 C=0.1320 T=0.8680
African Others Sub 182 C=0.093 T=0.907
African American Sub 4962 C=0.1334 T=0.8666
Asian Sub 232 C=0.362 T=0.638
East Asian Sub 158 C=0.361 T=0.639
Other Asian Sub 74 C=0.36 T=0.64
Latin American 1 Sub 390 C=0.292 T=0.708
Latin American 2 Sub 3364 C=0.3915 T=0.6085
South Asian Sub 4888 C=0.3818 T=0.6182
Other Sub 2006 C=0.3285 T=0.6715


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 C=0.278896 T=0.721104
gnomAD - Genomes Global Study-wide 139956 C=0.275701 T=0.724299
gnomAD - Genomes European Sub 75800 C=0.32544 T=0.67456
gnomAD - Genomes African Sub 41936 C=0.14005 T=0.85995
gnomAD - Genomes American Sub 13626 C=0.36350 T=0.63650
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.3693 T=0.6307
gnomAD - Genomes East Asian Sub 3124 C=0.4014 T=0.5986
gnomAD - Genomes Other Sub 2150 C=0.2847 T=0.7153
Allele Frequency Aggregator Total Global 72102 C=0.31662 T=0.68338
Allele Frequency Aggregator European Sub 56078 C=0.32294 T=0.67706
Allele Frequency Aggregator African Sub 5144 C=0.1320 T=0.8680
Allele Frequency Aggregator South Asian Sub 4888 C=0.3818 T=0.6182
Allele Frequency Aggregator Latin American 2 Sub 3364 C=0.3915 T=0.6085
Allele Frequency Aggregator Other Sub 2006 C=0.3285 T=0.6715
Allele Frequency Aggregator Latin American 1 Sub 390 C=0.292 T=0.708
Allele Frequency Aggregator Asian Sub 232 C=0.362 T=0.638
14KJPN JAPANESE Study-wide 28258 C=0.43351 T=0.56649
8.3KJPN JAPANESE Study-wide 16758 C=0.43030 T=0.56970
1000Genomes_30x Global Study-wide 6404 C=0.2976 T=0.7024
1000Genomes_30x African Sub 1786 C=0.0890 T=0.9110
1000Genomes_30x Europe Sub 1266 C=0.3136 T=0.6864
1000Genomes_30x South Asian Sub 1202 C=0.4168 T=0.5832
1000Genomes_30x East Asian Sub 1170 C=0.3897 T=0.6103
1000Genomes_30x American Sub 980 C=0.401 T=0.599
1000Genomes Global Study-wide 5008 C=0.3041 T=0.6959
1000Genomes African Sub 1322 C=0.0953 T=0.9047
1000Genomes East Asian Sub 1008 C=0.4008 T=0.5992
1000Genomes Europe Sub 1006 C=0.3191 T=0.6809
1000Genomes South Asian Sub 978 C=0.409 T=0.591
1000Genomes American Sub 694 C=0.392 T=0.608
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3183 T=0.6817
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3220 T=0.6780
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3099 T=0.6901
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.3898 T=0.6102
HGDP-CEPH-db Supplement 1 Global Study-wide 2068 C=0.4052 T=0.5948
HGDP-CEPH-db Supplement 1 Est_Asia Sub 464 C=0.420 T=0.580
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.399 T=0.601
HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 C=0.399 T=0.601
HGDP-CEPH-db Supplement 1 Europe Sub 316 C=0.396 T=0.604
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.107 T=0.893
HGDP-CEPH-db Supplement 1 America Sub 212 C=0.708 T=0.292
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.53 T=0.47
HapMap Global Study-wide 1886 C=0.2534 T=0.7466
HapMap American Sub 768 C=0.339 T=0.661
HapMap African Sub 690 C=0.086 T=0.914
HapMap Asian Sub 252 C=0.421 T=0.579
HapMap Europe Sub 176 C=0.301 T=0.699
Korean Genome Project KOREAN Study-wide 1832 C=0.3941 T=0.6059
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.310 T=0.690
Northern Sweden ACPOP Study-wide 600 C=0.348 T=0.652
SGDP_PRJ Global Study-wide 446 C=0.249 T=0.751
Qatari Global Study-wide 216 C=0.394 T=0.606
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.407 T=0.593
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 58 C=0.28 T=0.72
Siberian Global Study-wide 50 C=0.26 T=0.74
The Danish reference pan genome Danish Study-wide 40 C=0.33 T=0.68
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 11 NC_000011.10:g.86046547C>T
GRCh37.p13 chr 11 NC_000011.9:g.85757589C>T
PICALM RefSeqGene NG_028942.1:g.28335G>A
Gene: PICALM, phosphatidylinositol binding clathrin assembly protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PICALM transcript variant 2 NM_001008660.3:c.131-1493…

NM_001008660.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant 3 NM_001206946.2:c.131-1493…

NM_001206946.2:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant 4 NM_001206947.2:c.-23-1493…

NM_001206947.2:c.-23-14936G>A

N/A Intron Variant
PICALM transcript variant 1 NM_007166.4:c.131-14936G>A N/A Intron Variant
PICALM transcript variant X1 XM_005274322.4:c.131-1493…

XM_005274322.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X2 XM_005274326.4:c.131-1493…

XM_005274326.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X3 XM_005274328.4:c.131-1493…

XM_005274328.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X6 XM_005274329.5:c.131-1493…

XM_005274329.5:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X9 XM_005274331.4:c.131-1493…

XM_005274331.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X9 XM_005274334.4:c.131-1493…

XM_005274334.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X12 XM_005274336.4:c.131-1493…

XM_005274336.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X15 XM_005274337.4:c.131-1493…

XM_005274337.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X22 XM_005274340.4:c.131-1493…

XM_005274340.4:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X5 XM_017018381.3:c.131-1493…

XM_017018381.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X13 XM_017018383.3:c.131-1493…

XM_017018383.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X14 XM_017018384.3:c.131-1493…

XM_017018384.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X16 XM_017018385.3:c.131-1493…

XM_017018385.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X18 XM_017018386.3:c.131-1493…

XM_017018386.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X19 XM_017018387.3:c.131-1493…

XM_017018387.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X20 XM_017018388.3:c.131-1493…

XM_017018388.3:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X4 XM_024448700.2:c.131-1493…

XM_024448700.2:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X7 XM_047427659.1:c.131-1493…

XM_047427659.1:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X8 XM_047427660.1:c.-23-1493…

XM_047427660.1:c.-23-14936G>A

N/A Intron Variant
PICALM transcript variant X10 XM_047427661.1:c.131-1493…

XM_047427661.1:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X11 XM_047427662.1:c.131-1493…

XM_047427662.1:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X17 XM_047427663.1:c.131-1493…

XM_047427663.1:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X21 XM_047427665.1:c.131-1493…

XM_047427665.1:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X23 XM_047427666.1:c.-23-1493…

XM_047427666.1:c.-23-14936G>A

N/A Intron Variant
PICALM transcript variant X24 XM_047427667.1:c.131-1493…

XM_047427667.1:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X25 XM_047427668.1:c.131-1493…

XM_047427668.1:c.131-14936G>A

N/A Intron Variant
PICALM transcript variant X26 XM_047427669.1:c.131-1493…

XM_047427669.1:c.131-14936G>A

N/A Intron Variant
Gene: LOC124902730, uncharacterized LOC124902730 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124902730 transcript variant X1 XR_007062822.1:n.17330G>A N/A Non Coding 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 C= T
GRCh38.p14 chr 11 NC_000011.10:g.86046547= NC_000011.10:g.86046547C>T
GRCh37.p13 chr 11 NC_000011.9:g.85757589= NC_000011.9:g.85757589C>T
PICALM RefSeqGene NG_028942.1:g.28335= NG_028942.1:g.28335G>A
LOC124902730 transcript variant X1 XR_007062822.1:n.17330= XR_007062822.1:n.17330G>A
PICALM transcript variant 2 NM_001008660.2:c.131-14936= NM_001008660.2:c.131-14936G>A
PICALM transcript variant 2 NM_001008660.3:c.131-14936= NM_001008660.3:c.131-14936G>A
PICALM transcript variant 3 NM_001206946.1:c.131-14936= NM_001206946.1:c.131-14936G>A
PICALM transcript variant 3 NM_001206946.2:c.131-14936= NM_001206946.2:c.131-14936G>A
PICALM transcript variant 4 NM_001206947.1:c.-23-14936= NM_001206947.1:c.-23-14936G>A
PICALM transcript variant 4 NM_001206947.2:c.-23-14936= NM_001206947.2:c.-23-14936G>A
PICALM transcript variant 1 NM_007166.3:c.131-14936= NM_007166.3:c.131-14936G>A
PICALM transcript variant 1 NM_007166.4:c.131-14936= NM_007166.4:c.131-14936G>A
PICALM transcript variant X1 XM_005274322.1:c.131-14936= XM_005274322.1:c.131-14936G>A
PICALM transcript variant X1 XM_005274322.4:c.131-14936= XM_005274322.4:c.131-14936G>A
PICALM transcript variant X2 XM_005274323.1:c.131-14936= XM_005274323.1:c.131-14936G>A
PICALM transcript variant X3 XM_005274324.1:c.131-14936= XM_005274324.1:c.131-14936G>A
PICALM transcript variant X4 XM_005274325.1:c.131-14936= XM_005274325.1:c.131-14936G>A
PICALM transcript variant X5 XM_005274326.1:c.131-14936= XM_005274326.1:c.131-14936G>A
PICALM transcript variant X2 XM_005274326.4:c.131-14936= XM_005274326.4:c.131-14936G>A
PICALM transcript variant X6 XM_005274327.1:c.131-14936= XM_005274327.1:c.131-14936G>A
PICALM transcript variant X7 XM_005274328.1:c.131-14936= XM_005274328.1:c.131-14936G>A
PICALM transcript variant X3 XM_005274328.4:c.131-14936= XM_005274328.4:c.131-14936G>A
PICALM transcript variant X8 XM_005274329.1:c.131-14936= XM_005274329.1:c.131-14936G>A
PICALM transcript variant X6 XM_005274329.5:c.131-14936= XM_005274329.5:c.131-14936G>A
PICALM transcript variant X9 XM_005274330.1:c.131-14936= XM_005274330.1:c.131-14936G>A
PICALM transcript variant X10 XM_005274331.1:c.131-14936= XM_005274331.1:c.131-14936G>A
PICALM transcript variant X9 XM_005274331.4:c.131-14936= XM_005274331.4:c.131-14936G>A
PICALM transcript variant X11 XM_005274332.1:c.131-14936= XM_005274332.1:c.131-14936G>A
PICALM transcript variant X12 XM_005274333.1:c.131-14936= XM_005274333.1:c.131-14936G>A
PICALM transcript variant X13 XM_005274334.1:c.131-14936= XM_005274334.1:c.131-14936G>A
PICALM transcript variant X9 XM_005274334.4:c.131-14936= XM_005274334.4:c.131-14936G>A
PICALM transcript variant X14 XM_005274335.1:c.131-14936= XM_005274335.1:c.131-14936G>A
PICALM transcript variant X15 XM_005274336.1:c.131-14936= XM_005274336.1:c.131-14936G>A
PICALM transcript variant X12 XM_005274336.4:c.131-14936= XM_005274336.4:c.131-14936G>A
PICALM transcript variant X16 XM_005274337.1:c.131-14936= XM_005274337.1:c.131-14936G>A
PICALM transcript variant X15 XM_005274337.4:c.131-14936= XM_005274337.4:c.131-14936G>A
PICALM transcript variant X19 XM_005274340.1:c.131-14936= XM_005274340.1:c.131-14936G>A
PICALM transcript variant X22 XM_005274340.4:c.131-14936= XM_005274340.4:c.131-14936G>A
PICALM transcript variant X5 XM_017018381.3:c.131-14936= XM_017018381.3:c.131-14936G>A
PICALM transcript variant X13 XM_017018383.3:c.131-14936= XM_017018383.3:c.131-14936G>A
PICALM transcript variant X14 XM_017018384.3:c.131-14936= XM_017018384.3:c.131-14936G>A
PICALM transcript variant X16 XM_017018385.3:c.131-14936= XM_017018385.3:c.131-14936G>A
PICALM transcript variant X18 XM_017018386.3:c.131-14936= XM_017018386.3:c.131-14936G>A
PICALM transcript variant X19 XM_017018387.3:c.131-14936= XM_017018387.3:c.131-14936G>A
PICALM transcript variant X20 XM_017018388.3:c.131-14936= XM_017018388.3:c.131-14936G>A
PICALM transcript variant X4 XM_024448700.2:c.131-14936= XM_024448700.2:c.131-14936G>A
PICALM transcript variant X7 XM_047427659.1:c.131-14936= XM_047427659.1:c.131-14936G>A
PICALM transcript variant X8 XM_047427660.1:c.-23-14936= XM_047427660.1:c.-23-14936G>A
PICALM transcript variant X10 XM_047427661.1:c.131-14936= XM_047427661.1:c.131-14936G>A
PICALM transcript variant X11 XM_047427662.1:c.131-14936= XM_047427662.1:c.131-14936G>A
PICALM transcript variant X17 XM_047427663.1:c.131-14936= XM_047427663.1:c.131-14936G>A
PICALM transcript variant X21 XM_047427665.1:c.131-14936= XM_047427665.1:c.131-14936G>A
PICALM transcript variant X23 XM_047427666.1:c.-23-14936= XM_047427666.1:c.-23-14936G>A
PICALM transcript variant X24 XM_047427667.1:c.131-14936= XM_047427667.1:c.131-14936G>A
PICALM transcript variant X25 XM_047427668.1:c.131-14936= XM_047427668.1:c.131-14936G>A
PICALM transcript variant X26 XM_047427669.1:c.131-14936= XM_047427669.1:c.131-14936G>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#.

111 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss851433 Aug 11, 2000 (83)
2 WI_SSAHASNP ss12149027 Jul 11, 2003 (116)
3 PERLEGEN ss14894340 Dec 05, 2003 (119)
4 SC_SNP ss15634693 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss16558130 Feb 27, 2004 (120)
6 SSAHASNP ss20852705 Apr 05, 2004 (121)
7 PERLEGEN ss24211143 Sep 20, 2004 (123)
8 ABI ss38802111 Mar 14, 2006 (126)
9 AFFY ss65928986 Nov 30, 2006 (127)
10 AFFY ss66369072 Nov 30, 2006 (127)
11 ILLUMINA ss66592055 Nov 30, 2006 (127)
12 ILLUMINA ss67498077 Nov 30, 2006 (127)
13 ILLUMINA ss67858839 Nov 30, 2006 (127)
14 ILLUMINA ss70886325 May 23, 2008 (130)
15 ILLUMINA ss71478210 May 17, 2007 (127)
16 ILLUMINA ss74901397 Dec 07, 2007 (129)
17 AFFY ss76094270 Dec 07, 2007 (129)
18 HGSV ss77546072 Dec 07, 2007 (129)
19 ILLUMINA ss79233592 Dec 14, 2007 (130)
20 HGSV ss80037282 Dec 14, 2007 (130)
21 HGSV ss83499795 Dec 14, 2007 (130)
22 KRIBB_YJKIM ss83515473 Dec 14, 2007 (130)
23 HGSV ss83967008 Dec 14, 2007 (130)
24 BCMHGSC_JDW ss88665965 Mar 24, 2008 (129)
25 HUMANGENOME_JCVI ss97494930 Feb 04, 2009 (130)
26 BGI ss106756557 Feb 04, 2009 (130)
27 1000GENOMES ss110781710 Jan 25, 2009 (130)
28 1000GENOMES ss114907344 Jan 25, 2009 (130)
29 ILLUMINA-UK ss119924497 Dec 01, 2009 (131)
30 ILLUMINA ss122616872 Dec 01, 2009 (131)
31 ENSEMBL ss132696274 Dec 01, 2009 (131)
32 ILLUMINA ss154382280 Dec 01, 2009 (131)
33 GMI ss156562327 Dec 01, 2009 (131)
34 ILLUMINA ss159558080 Dec 01, 2009 (131)
35 COMPLETE_GENOMICS ss168647518 Jul 04, 2010 (132)
36 COMPLETE_GENOMICS ss170491376 Jul 04, 2010 (132)
37 ILLUMINA ss172191934 Jul 04, 2010 (132)
38 AFFY ss172483539 Jul 04, 2010 (132)
39 ILLUMINA ss174110198 Jul 04, 2010 (132)
40 COMPLETE_GENOMICS ss175214239 Jul 04, 2010 (132)
41 BUSHMAN ss202981190 Jul 04, 2010 (132)
42 BCM-HGSC-SUB ss207596728 Jul 04, 2010 (132)
43 1000GENOMES ss225361237 Jul 14, 2010 (132)
44 1000GENOMES ss235644260 Jul 15, 2010 (132)
45 1000GENOMES ss242258383 Jul 15, 2010 (132)
46 GMI ss281095277 May 04, 2012 (137)
47 GMI ss286421273 Apr 25, 2013 (138)
48 PJP ss291088516 May 09, 2011 (134)
49 ILLUMINA ss537391879 Sep 08, 2015 (146)
50 TISHKOFF ss562707809 Apr 25, 2013 (138)
51 SSMP ss658221050 Apr 25, 2013 (138)
52 ILLUMINA ss825564110 Apr 01, 2015 (144)
53 ILLUMINA ss833069240 Jul 13, 2019 (153)
54 EVA-GONL ss988765868 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1077899651 Aug 21, 2014 (142)
56 1000GENOMES ss1342231092 Aug 21, 2014 (142)
57 DDI ss1426699854 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1575839750 Apr 01, 2015 (144)
59 EVA_DECODE ss1598430135 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1627080372 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1670074405 Apr 01, 2015 (144)
62 EVA_SVP ss1713270693 Apr 01, 2015 (144)
63 HAMMER_LAB ss1806913641 Sep 08, 2015 (146)
64 WEILL_CORNELL_DGM ss1932124457 Feb 12, 2016 (147)
65 GENOMED ss1967410048 Jul 19, 2016 (147)
66 JJLAB ss2026804491 Sep 14, 2016 (149)
67 USC_VALOUEV ss2155116559 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2184246206 Dec 20, 2016 (150)
69 SYSTEMSBIOZJU ss2627874616 Nov 08, 2017 (151)
70 GRF ss2699413877 Nov 08, 2017 (151)
71 GNOMAD ss2902381248 Nov 08, 2017 (151)
72 SWEGEN ss3008480600 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3027199822 Nov 08, 2017 (151)
74 CSHL ss3349704394 Nov 08, 2017 (151)
75 ILLUMINA ss3626708838 Oct 12, 2018 (152)
76 ILLUMINA ss3637920345 Oct 12, 2018 (152)
77 ILLUMINA ss3638973806 Oct 12, 2018 (152)
78 ILLUMINA ss3639487973 Oct 12, 2018 (152)
79 ILLUMINA ss3642917678 Oct 12, 2018 (152)
80 URBANLAB ss3649659438 Oct 12, 2018 (152)
81 EGCUT_WGS ss3675804040 Jul 13, 2019 (153)
82 EVA_DECODE ss3692249142 Jul 13, 2019 (153)
83 ACPOP ss3738377158 Jul 13, 2019 (153)
84 EVA ss3749586352 Jul 13, 2019 (153)
85 PACBIO ss3787013273 Jul 13, 2019 (153)
86 PACBIO ss3792144473 Jul 13, 2019 (153)
87 PACBIO ss3797026819 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3814918524 Jul 13, 2019 (153)
89 EVA ss3832743000 Apr 26, 2020 (154)
90 EVA ss3839929555 Apr 26, 2020 (154)
91 EVA ss3845410098 Apr 26, 2020 (154)
92 HGDP ss3847425118 Apr 26, 2020 (154)
93 SGDP_PRJ ss3876749299 Apr 26, 2020 (154)
94 KRGDB ss3925173268 Apr 26, 2020 (154)
95 KOGIC ss3970402021 Apr 26, 2020 (154)
96 EVA ss3985546205 Apr 27, 2021 (155)
97 EVA ss4017549560 Apr 27, 2021 (155)
98 TOPMED ss4893573456 Apr 27, 2021 (155)
99 TOMMO_GENOMICS ss5203070854 Apr 27, 2021 (155)
100 1000G_HIGH_COVERAGE ss5288260435 Oct 16, 2022 (156)
101 HUGCELL_USP ss5483332916 Oct 16, 2022 (156)
102 EVA ss5510446028 Oct 16, 2022 (156)
103 1000G_HIGH_COVERAGE ss5584403038 Oct 16, 2022 (156)
104 SANFORD_IMAGENETICS ss5624280666 Oct 16, 2022 (156)
105 SANFORD_IMAGENETICS ss5651697483 Oct 16, 2022 (156)
106 TOMMO_GENOMICS ss5751289046 Oct 16, 2022 (156)
107 YY_MCH ss5812616435 Oct 16, 2022 (156)
108 EVA ss5836978394 Oct 16, 2022 (156)
109 EVA ss5850068878 Oct 16, 2022 (156)
110 EVA ss5920927912 Oct 16, 2022 (156)
111 EVA ss5943019529 Oct 16, 2022 (156)
112 1000Genomes NC_000011.9 - 85757589 Oct 12, 2018 (152)
113 1000Genomes_30x NC_000011.10 - 86046547 Oct 16, 2022 (156)
114 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 85757589 Oct 12, 2018 (152)
115 Genetic variation in the Estonian population NC_000011.9 - 85757589 Oct 12, 2018 (152)
116 The Danish reference pan genome NC_000011.9 - 85757589 Apr 26, 2020 (154)
117 gnomAD - Genomes NC_000011.10 - 86046547 Apr 27, 2021 (155)
118 Genome of the Netherlands Release 5 NC_000011.9 - 85757589 Apr 26, 2020 (154)
119 HGDP-CEPH-db Supplement 1 NC_000011.8 - 85435237 Apr 26, 2020 (154)
120 HapMap NC_000011.10 - 86046547 Apr 26, 2020 (154)
121 KOREAN population from KRGDB NC_000011.9 - 85757589 Apr 26, 2020 (154)
122 Korean Genome Project NC_000011.10 - 86046547 Apr 26, 2020 (154)
123 Northern Sweden NC_000011.9 - 85757589 Jul 13, 2019 (153)
124 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 85757589 Apr 27, 2021 (155)
125 Qatari NC_000011.9 - 85757589 Apr 26, 2020 (154)
126 SGDP_PRJ NC_000011.9 - 85757589 Apr 26, 2020 (154)
127 Siberian NC_000011.9 - 85757589 Apr 26, 2020 (154)
128 8.3KJPN NC_000011.9 - 85757589 Apr 27, 2021 (155)
129 14KJPN NC_000011.10 - 86046547 Oct 16, 2022 (156)
130 TopMed NC_000011.10 - 86046547 Apr 27, 2021 (155)
131 UK 10K study - Twins NC_000011.9 - 85757589 Oct 12, 2018 (152)
132 A Vietnamese Genetic Variation Database NC_000011.9 - 85757589 Jul 13, 2019 (153)
133 ALFA NC_000011.10 - 86046547 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)
rs17817328 Oct 08, 2004 (123)
rs57185288 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
103010, ss66369072, ss76094270, ss77546072, ss80037282, ss83499795, ss83967008, ss88665965, ss110781710, ss114907344, ss119924497, ss168647518, ss170491376, ss172483539, ss175214239, ss202981190, ss207596728, ss281095277, ss286421273, ss291088516, ss825564110, ss1598430135, ss1713270693, ss3638973806, ss3639487973, ss3642917678, ss3847425118 NC_000011.8:85435236:C:T NC_000011.10:86046546:C:T (self)
54785918, 30411935, 21542288, 2656408, 13567424, 32350662, 11662023, 772132, 14166387, 28766279, 7632913, 61040161, 30411935, 6744018, ss225361237, ss235644260, ss242258383, ss537391879, ss562707809, ss658221050, ss833069240, ss988765868, ss1077899651, ss1342231092, ss1426699854, ss1575839750, ss1627080372, ss1670074405, ss1806913641, ss1932124457, ss1967410048, ss2026804491, ss2155116559, ss2627874616, ss2699413877, ss2902381248, ss3008480600, ss3349704394, ss3626708838, ss3637920345, ss3675804040, ss3738377158, ss3749586352, ss3787013273, ss3792144473, ss3797026819, ss3832743000, ss3839929555, ss3876749299, ss3925173268, ss3985546205, ss4017549560, ss5203070854, ss5510446028, ss5624280666, ss5651697483, ss5836978394, ss5943019529 NC_000011.9:85757588:C:T NC_000011.10:86046546:C:T (self)
71928973, 386673691, 655833, 26780022, 85126150, 109119112, 5331082426, ss2184246206, ss3027199822, ss3649659438, ss3692249142, ss3814918524, ss3845410098, ss3970402021, ss4893573456, ss5288260435, ss5483332916, ss5584403038, ss5751289046, ss5812616435, ss5850068878, ss5920927912 NC_000011.10:86046546:C:T NC_000011.10:86046546:C:T (self)
ss12149027 NT_033927.5:15956616:C:T NC_000011.10:86046546:C:T (self)
ss15634693, ss16558130, ss20852705 NT_033927.6:15956617:C:T NC_000011.10:86046546:C:T (self)
ss851433, ss14894340, ss24211143, ss38802111, ss65928986, ss66592055, ss67498077, ss67858839, ss70886325, ss71478210, ss74901397, ss79233592, ss83515473, ss97494930, ss106756557, ss122616872, ss132696274, ss154382280, ss156562327, ss159558080, ss172191934, ss174110198 NT_167190.1:31063383:C:T NC_000011.10:86046546:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs677909
PMID Title Author Year Journal
20697030 Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Jun G et al. 2010 Archives of neurology
28870582 Linking Alzheimer's disease and type 2 diabetes: Novel shared susceptibility genes detected by cFDR approach. Wang XF et al. 2017 Journal of the neurological sciences
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