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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 Aliases 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.

rs556669

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr11:85725351 (GRCh38.p12) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.30055 (37740/125568, TOPMED)
T=0.2818 (8827/31322, GnomAD)
T=0.2865 (3725/13004, GO-ESP) (+ 6 more)
T=0.333 (1670/5008, 1000G)
T=0.285 (1279/4480, Estonian)
T=0.324 (1247/3854, ALSPAC)
T=0.333 (1233/3708, TWINSUK)
T=0.44 (268/609, Vietnamese)
T=0.34 (202/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SYTL2 : Missense Variant
Publications
0 citations
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.p12 chr 11 NC_000011.10:g.85725351T>A
GRCh38.p12 chr 11 NC_000011.10:g.85725351T>C
GRCh37.p13 chr 11 NC_000011.9:g.85436394T>A
GRCh37.p13 chr 11 NC_000011.9:g.85436394T>C
SYTL2 RefSeqGene NG_029712.2:g.90785A>T
SYTL2 RefSeqGene NG_029712.2:g.90785A>G
SYTL2 RefSeqGene NG_029712.1:g.90785A>T
SYTL2 RefSeqGene NG_029712.1:g.90785A>G
Gene: SYTL2, synaptotagmin like 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SYTL2 transcript variant g NM_001162951.2:c. N/A Intron Variant
SYTL2 transcript variant i NM_001162953.2:c. N/A Intron Variant
SYTL2 transcript variant j NM_001289608.1:c. N/A Intron Variant
SYTL2 transcript variant m NM_001365826.1:c. N/A Intron Variant
SYTL2 transcript variant n NM_001365827.1:c. N/A Intron Variant
SYTL2 transcript variant a NM_032943.4:c. N/A Intron Variant
SYTL2 transcript variant h NM_001162952.2:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant k NM_001289609.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant l NM_001289610.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant o NM_001365828.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant p NM_001365829.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant q NM_001365830.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant r NM_001365831.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant s NM_001365832.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant t NM_001365833.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant u NM_001365834.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant v NM_001365835.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant e NM_206929.3:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant f NM_206930.3:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant d NM_206928.3:c.4004A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform d NP_996811.2:p.Asp1335Val D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant d NM_206928.3:c.4004A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform d NP_996811.2:p.Asp1335Gly D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant c NM_206927.3:c.4007A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform c NP_996810.2:p.Asp1336Val D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant c NM_206927.3:c.4007A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform c NP_996810.2:p.Asp1336Gly D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X14 XM_005274060.1:c. N/A Intron Variant
SYTL2 transcript variant X15 XM_005274061.1:c. N/A Intron Variant
SYTL2 transcript variant X16 XM_005274062.2:c. N/A Intron Variant
SYTL2 transcript variant X18 XM_005274066.1:c. N/A Intron Variant
SYTL2 transcript variant X19 XM_017017937.1:c. N/A Intron Variant
SYTL2 transcript variant X26 XM_011545116.2:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant X21 XM_017017939.1:c. N/A Genic Upstream Transcript Variant
SYTL2 transcript variant X3 XM_005274057.1:c.4007A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X3 XP_005274114.1:p.Asp133...

XP_005274114.1:p.Asp1336Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X3 XM_005274057.1:c.4007A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X3 XP_005274114.1:p.Asp133...

XP_005274114.1:p.Asp1336Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X2 XM_011545106.1:c.4004A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X2 XP_011543408.1:p.Asp133...

XP_011543408.1:p.Asp1335Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X2 XM_011545106.1:c.4004A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X2 XP_011543408.1:p.Asp133...

XP_011543408.1:p.Asp1335Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X7 XM_011545108.1:c.4007A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X7 XP_011543410.1:p.Asp133...

XP_011543410.1:p.Asp1336Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X7 XM_011545108.1:c.4007A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X7 XP_011543410.1:p.Asp133...

XP_011543410.1:p.Asp1336Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X9 XM_011545110.1:c.4007A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X9 XP_011543412.1:p.Asp133...

XP_011543412.1:p.Asp1336Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X9 XM_011545110.1:c.4007A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X9 XP_011543412.1:p.Asp133...

XP_011543412.1:p.Asp1336Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X13 XM_011545112.1:c.4007A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X12 XP_011543414.1:p.Asp133...

XP_011543414.1:p.Asp1336Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X13 XM_011545112.1:c.4007A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X12 XP_011543414.1:p.Asp133...

XP_011543414.1:p.Asp1336Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X5 XM_011545107.2:c.3926A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X5 XP_011543409.1:p.Asp130...

XP_011543409.1:p.Asp1309Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X5 XM_011545107.2:c.3926A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X5 XP_011543409.1:p.Asp130...

XP_011543409.1:p.Asp1309Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X6 XM_017017934.1:c.3923A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X6 XP_016873423.1:p.Asp130...

XP_016873423.1:p.Asp1308Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X6 XM_017017934.1:c.3923A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X6 XP_016873423.1:p.Asp130...

XP_016873423.1:p.Asp1308Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X8 XM_011545109.2:c.3860A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X8 XP_011543411.1:p.Asp128...

XP_011543411.1:p.Asp1287Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X8 XM_011545109.2:c.3860A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X8 XP_011543411.1:p.Asp128...

XP_011543411.1:p.Asp1287Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X10 XM_017017935.1:c.4007A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X10 XP_016873424.1:p.Asp133...

XP_016873424.1:p.Asp1336Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X10 XM_017017935.1:c.4007A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X10 XP_016873424.1:p.Asp133...

XP_016873424.1:p.Asp1336Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X11 XM_017017936.1:c.3578A>T D [GAT] > V [GTT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X11 XP_016873425.1:p.Asp119...

XP_016873425.1:p.Asp1193Val

D (Asp) > V (Val) Missense Variant
SYTL2 transcript variant X11 XM_017017936.1:c.3578A>G D [GAT] > G [GGT] Coding Sequence Variant
synaptotagmin-like protein 2 isoform X11 XP_016873425.1:p.Asp119...

XP_016873425.1:p.Asp1193Gly

D (Asp) > G (Gly) Missense Variant
SYTL2 transcript variant X12 XR_001747912.1:n.4123A>T N/A Non Coding Transcript Variant
SYTL2 transcript variant X12 XR_001747912.1:n.4123A>G 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

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 125568 T=0.30055 C=0.69945
gnomAD - Genomes Global Study-wide 31322 T=0.2818 C=0.7182
gnomAD - Genomes European Sub 18860 T=0.3150 C=0.6850
gnomAD - Genomes African Sub 8694 T=0.170 C=0.830
gnomAD - Genomes East Asian Sub 1548 T=0.410 C=0.590
gnomAD - Genomes Other Sub 1084 T=0.319 C=0.681
gnomAD - Genomes American Sub 846 T=0.41 C=0.59
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.30 C=0.70
GO Exome Sequencing Project Global Study-wide 13004 T=0.2865 C=0.7135
GO Exome Sequencing Project European American Sub 8598 T=0.343 C=0.657
GO Exome Sequencing Project African American Sub 4406 T=0.176 C=0.824
1000Genomes Global Study-wide 5008 T=0.333 C=0.667
1000Genomes African Sub 1322 T=0.119 C=0.881
1000Genomes East Asian Sub 1008 T=0.399 C=0.601
1000Genomes Europe Sub 1006 T=0.345 C=0.655
1000Genomes South Asian Sub 978 T=0.48 C=0.52
1000Genomes American Sub 694 T=0.43 C=0.57
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.285 C=0.715
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.324 C=0.676
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.333 C=0.667
A Vietnamese Genetic Variation Database Global Study-wide 609 T=0.44 C=0.56
Northern Sweden ACPOP Study-wide 600 T=0.34 C=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 T= A C Note
GRCh38.p12 chr 11 NC_000011.10:g.85...

NC_000011.10:g.85725351=

NC_000011.10:g.85...

NC_000011.10:g.85725351T>A

NC_000011.10:g.85...

NC_000011.10:g.85725351T>C

GRCh37.p13 chr 11 NC_000011.9:g.854...

NC_000011.9:g.85436394=

NC_000011.9:g.854...

NC_000011.9:g.85436394T>A

NC_000011.9:g.854...

NC_000011.9:g.85436394T>C

SYTL2 RefSeqGene NG_029712.2:g.90785= NG_029712.2:g.907...

NG_029712.2:g.90785A>T

NG_029712.2:g.907...

NG_029712.2:g.90785A>G

SYTL2 RefSeqGene NG_029712.1:g.90785= NG_029712.1:g.907...

NG_029712.1:g.90785A>T

NG_029712.1:g.907...

NG_029712.1:g.90785A>G

SYTL2 transcript variant c NM_206927.3:c.4007= NM_206927.3:c.400...

NM_206927.3:c.4007A>T

NM_206927.3:c.400...

NM_206927.3:c.4007A>G

Protein-coding transcripts NM_206927.2:c.1106= NM_206927.2:c.110...

NM_206927.2:c.1106A>T

NM_206927.2:c.110...

NM_206927.2:c.1106A>G

SYTL2 transcript variant d NM_206928.3:c.4004= NM_206928.3:c.400...

NM_206928.3:c.4004A>T

NM_206928.3:c.400...

NM_206928.3:c.4004A>G

Protein-coding transcripts NM_206928.2:c.1106= NM_206928.2:c.110...

NM_206928.2:c.1106A>T

NM_206928.2:c.110...

NM_206928.2:c.1106A>G

SYTL2 transcript variant X5 XM_011545107.2:c....

XM_011545107.2:c.3926=

XM_011545107.2:c....

XM_011545107.2:c.3926A>T

XM_011545107.2:c....

XM_011545107.2:c.3926A>G

SYTL2 transcript variant X8 XM_011545109.2:c....

XM_011545109.2:c.3860=

XM_011545109.2:c....

XM_011545109.2:c.3860A>T

XM_011545109.2:c....

XM_011545109.2:c.3860A>G

SYTL2 transcript variant X6 XM_017017934.1:c....

XM_017017934.1:c.3923=

XM_017017934.1:c....

XM_017017934.1:c.3923A>T

XM_017017934.1:c....

XM_017017934.1:c.3923A>G

SYTL2 transcript variant X2 XM_011545106.1:c....

XM_011545106.1:c.4004=

XM_011545106.1:c....

XM_011545106.1:c.4004A>T

XM_011545106.1:c....

XM_011545106.1:c.4004A>G

SYTL2 transcript variant X3 XM_005274057.1:c....

XM_005274057.1:c.4007=

XM_005274057.1:c....

XM_005274057.1:c.4007A>T

XM_005274057.1:c....

XM_005274057.1:c.4007A>G

SYTL2 transcript variant X7 XM_011545108.1:c....

XM_011545108.1:c.4007=

XM_011545108.1:c....

XM_011545108.1:c.4007A>T

XM_011545108.1:c....

XM_011545108.1:c.4007A>G

SYTL2 transcript variant X9 XM_011545110.1:c....

XM_011545110.1:c.4007=

XM_011545110.1:c....

XM_011545110.1:c.4007A>T

XM_011545110.1:c....

XM_011545110.1:c.4007A>G

SYTL2 transcript variant X10 XM_017017935.1:c....

XM_017017935.1:c.4007=

XM_017017935.1:c....

XM_017017935.1:c.4007A>T

XM_017017935.1:c....

XM_017017935.1:c.4007A>G

SYTL2 transcript variant X12 XR_001747912.1:n....

XR_001747912.1:n.4123=

XR_001747912.1:n....

XR_001747912.1:n.4123A>T

XR_001747912.1:n....

XR_001747912.1:n.4123A>G

SYTL2 transcript variant X11 XM_017017936.1:c....

XM_017017936.1:c.3578=

XM_017017936.1:c....

XM_017017936.1:c.3578A>T

XM_017017936.1:c....

XM_017017936.1:c.3578A>G

SYTL2 transcript variant X13 XM_011545112.1:c....

XM_011545112.1:c.4007=

XM_011545112.1:c....

XM_011545112.1:c.4007A>T

XM_011545112.1:c....

XM_011545112.1:c.4007A>G

synaptotagmin-like protein 2 isoform c NP_996810.2:p.Asp...

NP_996810.2:p.Asp1336=

NP_996810.2:p.Asp...

NP_996810.2:p.Asp1336Val

NP_996810.2:p.Asp...

NP_996810.2:p.Asp1336Gly

synaptotagmin-like protein 2 isoform d NP_996811.2:p.Asp...

NP_996811.2:p.Asp1335=

NP_996811.2:p.Asp...

NP_996811.2:p.Asp1335Val

NP_996811.2:p.Asp...

NP_996811.2:p.Asp1335Gly

synaptotagmin-like protein 2 isoform X5 XP_011543409.1:p....

XP_011543409.1:p.Asp1309=

XP_011543409.1:p....

XP_011543409.1:p.Asp1309Val

XP_011543409.1:p....

XP_011543409.1:p.Asp1309Gly

synaptotagmin-like protein 2 isoform X8 XP_011543411.1:p....

XP_011543411.1:p.Asp1287=

XP_011543411.1:p....

XP_011543411.1:p.Asp1287Val

XP_011543411.1:p....

XP_011543411.1:p.Asp1287Gly

synaptotagmin-like protein 2 isoform X6 XP_016873423.1:p....

XP_016873423.1:p.Asp1308=

XP_016873423.1:p....

XP_016873423.1:p.Asp1308Val

XP_016873423.1:p....

XP_016873423.1:p.Asp1308Gly

synaptotagmin-like protein 2 isoform X2 XP_011543408.1:p....

XP_011543408.1:p.Asp1335=

XP_011543408.1:p....

XP_011543408.1:p.Asp1335Val

XP_011543408.1:p....

XP_011543408.1:p.Asp1335Gly

synaptotagmin-like protein 2 isoform X3 XP_005274114.1:p....

XP_005274114.1:p.Asp1336=

XP_005274114.1:p....

XP_005274114.1:p.Asp1336Val

XP_005274114.1:p....

XP_005274114.1:p.Asp1336Gly

synaptotagmin-like protein 2 isoform X7 XP_011543410.1:p....

XP_011543410.1:p.Asp1336=

XP_011543410.1:p....

XP_011543410.1:p.Asp1336Val

XP_011543410.1:p....

XP_011543410.1:p.Asp1336Gly

synaptotagmin-like protein 2 isoform X9 XP_011543412.1:p....

XP_011543412.1:p.Asp1336=

XP_011543412.1:p....

XP_011543412.1:p.Asp1336Val

XP_011543412.1:p....

XP_011543412.1:p.Asp1336Gly

synaptotagmin-like protein 2 isoform X10 XP_016873424.1:p....

XP_016873424.1:p.Asp1336=

XP_016873424.1:p....

XP_016873424.1:p.Asp1336Val

XP_016873424.1:p....

XP_016873424.1:p.Asp1336Gly

synaptotagmin-like protein 2 isoform X11 XP_016873425.1:p....

XP_016873425.1:p.Asp1193=

XP_016873425.1:p....

XP_016873425.1:p.Asp1193Val

XP_016873425.1:p....

XP_016873425.1:p.Asp1193Gly

synaptotagmin-like protein 2 isoform X12 XP_011543414.1:p....

XP_011543414.1:p.Asp1336=

XP_011543414.1:p....

XP_011543414.1:p.Asp1336Val

XP_011543414.1:p....

XP_011543414.1:p.Asp1336Gly

Protein NP_996810.1:p.Asp...

NP_996810.1:p.Asp369=

NP_996810.1:p.Asp...

NP_996810.1:p.Asp369Val

NP_996810.1:p.Asp...

NP_996810.1:p.Asp369Gly

Protein NP_996811.1:p.Asp...

NP_996811.1:p.Asp369=

NP_996811.1:p.Asp...

NP_996811.1:p.Asp369Val

NP_996811.1:p.Asp...

NP_996811.1:p.Asp369Gly

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#.

90 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss727709 Aug 11, 2000 (83)
2 KWOK ss1760806 Oct 18, 2000 (87)
3 KWOK ss1762293 Oct 18, 2000 (87)
4 KWOK ss1857338 Oct 18, 2000 (87)
5 KWOK ss1857359 Oct 18, 2000 (87)
6 TSC-CSHL ss5561314 Oct 08, 2002 (108)
7 CSHL-HAPMAP ss19917742 Feb 27, 2004 (120)
8 SSAHASNP ss20772281 Apr 05, 2004 (121)
9 ABI ss38792618 Mar 15, 2006 (126)
10 PERLEGEN ss69323100 May 18, 2007 (127)
11 AFFY ss74808469 Aug 16, 2007 (128)
12 HGSV ss85277951 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss88665017 Mar 24, 2008 (129)
14 HUMANGENOME_JCVI ss97494718 Feb 05, 2009 (130)
15 BGI ss106756405 Feb 05, 2009 (130)
16 1000GENOMES ss114905085 Jan 25, 2009 (130)
17 ILLUMINA-UK ss119924062 Dec 01, 2009 (131)
18 ENSEMBL ss132695203 Dec 01, 2009 (131)
19 ENSEMBL ss137631458 Dec 01, 2009 (131)
20 GMI ss156560381 Dec 01, 2009 (131)
21 SEATTLESEQ ss159724477 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss168646105 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss170487392 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss175213462 Jul 04, 2010 (132)
25 BUSHMAN ss202978567 Jul 04, 2010 (132)
26 1000GENOMES ss217323324 Jul 14, 2010 (132)
27 1000GENOMES ss217400326 Jul 14, 2010 (132)
28 1000GENOMES ss217402135 Jul 14, 2010 (132)
29 1000GENOMES ss217410055 Jul 14, 2010 (132)
30 1000GENOMES ss217420966 Jul 14, 2010 (132)
31 1000GENOMES ss217423692 Jul 14, 2010 (132)
32 1000GENOMES ss217426574 Jul 14, 2010 (132)
33 1000GENOMES ss225360100 Jul 14, 2010 (132)
34 1000GENOMES ss235643414 Jul 15, 2010 (132)
35 1000GENOMES ss242257745 Jul 15, 2010 (132)
36 BL ss255314378 May 09, 2011 (134)
37 GMI ss281094460 May 04, 2012 (137)
38 GMI ss286420826 Apr 25, 2013 (138)
39 PJP ss291088162 May 09, 2011 (134)
40 NHLBI-ESP ss342337515 May 09, 2011 (134)
41 1000GENOMES ss491026558 May 04, 2012 (137)
42 EXOME_CHIP ss491457060 May 04, 2012 (137)
43 CLINSEQ_SNP ss491651698 May 04, 2012 (137)
44 TISHKOFF ss562706563 Apr 25, 2013 (138)
45 SSMP ss658219538 Apr 25, 2013 (138)
46 JMKIDD_LAB ss974480637 Aug 21, 2014 (142)
47 EVA-GONL ss988763367 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1067526972 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1077897995 Aug 21, 2014 (142)
50 1000GENOMES ss1342221936 Aug 21, 2014 (142)
51 HAMMER_LAB ss1397611560 Sep 08, 2015 (146)
52 DDI ss1426699279 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1575838154 Apr 01, 2015 (144)
54 EVA_FINRISK ss1584077261 Apr 01, 2015 (144)
55 EVA_DECODE ss1598427565 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1627075415 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1670069448 Apr 01, 2015 (144)
58 EVA_EXAC ss1690573901 Apr 01, 2015 (144)
59 EVA_EXAC ss1690573902 Apr 01, 2015 (144)
60 EVA_MGP ss1711304218 Apr 01, 2015 (144)
61 HAMMER_LAB ss1806912711 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1932122043 Feb 12, 2016 (147)
63 GENOMED ss1967409679 Jul 19, 2016 (147)
64 JJLAB ss2026803240 Sep 14, 2016 (149)
65 USC_VALOUEV ss2155115230 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2184227223 Dec 20, 2016 (150)
67 TOPMED ss2347739300 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2627874040 Nov 08, 2017 (151)
69 GRF ss2699412585 Nov 08, 2017 (151)
70 GNOMAD ss2739293444 Nov 08, 2017 (151)
71 GNOMAD ss2748710847 Nov 08, 2017 (151)
72 GNOMAD ss2902355305 Nov 08, 2017 (151)
73 AFFY ss2984952149 Nov 08, 2017 (151)
74 SWEGEN ss3008476829 Nov 08, 2017 (151)
75 EVA_SAMSUNG_MC ss3023067034 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3027199206 Nov 08, 2017 (151)
77 TOPMED ss3151562609 Nov 08, 2017 (151)
78 TOPMED ss3151562610 Nov 08, 2017 (151)
79 CSHL ss3349703391 Nov 08, 2017 (151)
80 OMUKHERJEE_ADBS ss3646430848 Oct 12, 2018 (152)
81 URBANLAB ss3649659007 Oct 12, 2018 (152)
82 ILLUMINA ss3653724410 Oct 12, 2018 (152)
83 EGCUT_WGS ss3675800160 Jul 13, 2019 (153)
84 EVA_DECODE ss3692244667 Jul 13, 2019 (153)
85 ACPOP ss3738374975 Jul 13, 2019 (153)
86 EVA ss3749583532 Jul 13, 2019 (153)
87 PACBIO ss3787012712 Jul 13, 2019 (153)
88 PACBIO ss3792144026 Jul 13, 2019 (153)
89 PACBIO ss3797026362 Jul 13, 2019 (153)
90 KHV_HUMAN_GENOMES ss3814915766 Jul 13, 2019 (153)
91 1000Genomes NC_000011.9 - 85436394 Oct 12, 2018 (152)
92 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 85436394 Oct 12, 2018 (152)
93 Genetic variation in the Estonian population NC_000011.9 - 85436394 Oct 12, 2018 (152)
94 ExAC

Submission ignored due to conflicting rows:
Row 844657 (NC_000011.9:85436393:T:T 41812/121102, NC_000011.9:85436393:T:C 79290/121102)
Row 844658 (NC_000011.9:85436393:T:T 121101/121102, NC_000011.9:85436393:T:A 1/121102)

- Oct 12, 2018 (152)
95 ExAC

Submission ignored due to conflicting rows:
Row 844657 (NC_000011.9:85436393:T:T 41812/121102, NC_000011.9:85436393:T:C 79290/121102)
Row 844658 (NC_000011.9:85436393:T:T 121101/121102, NC_000011.9:85436393:T:A 1/121102)

- Oct 12, 2018 (152)
96 gnomAD - Genomes NC_000011.9 - 85436394 Jul 13, 2019 (153)
97 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8510065 (NC_000011.9:85436393:T:T 250753/250756, NC_000011.9:85436393:T:A 3/250756)
Row 8510066 (NC_000011.9:85436393:T:T 88255/250756, NC_000011.9:85436393:T:C 162501/250756)

- Jul 13, 2019 (153)
98 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8510065 (NC_000011.9:85436393:T:T 250753/250756, NC_000011.9:85436393:T:A 3/250756)
Row 8510066 (NC_000011.9:85436393:T:T 88255/250756, NC_000011.9:85436393:T:C 162501/250756)

- Jul 13, 2019 (153)
99 GO Exome Sequencing Project NC_000011.9 - 85436394 Oct 12, 2018 (152)
100 Northern Sweden NC_000011.9 - 85436394 Jul 13, 2019 (153)
101 TopMed NC_000011.10 - 85725351 Oct 12, 2018 (152)
102 UK 10K study - Twins NC_000011.9 - 85436394 Oct 12, 2018 (152)
103 A Vietnamese Genetic Variation Database NC_000011.9 - 85436394 Jul 13, 2019 (153)
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)
rs52826730 Sep 21, 2007 (128)
rs58763996 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1690573902, ss2739293444 NC_000011.9:85436393:T:A NC_000011.10:85725350:T:A (self)
ss3151562609 NC_000011.10:85725350:T:A NC_000011.10:85725350:T:A (self)
ss85277951, ss88665017, ss114905085, ss119924062, ss168646105, ss170487392, ss175213462, ss202978567, ss217323324, ss217400326, ss217402135, ss217410055, ss217420966, ss217423692, ss217426574, ss255314378, ss281094460, ss286420826, ss291088162, ss491651698, ss1397611560, ss1598427565 NC_000011.8:85114041:T:C NC_000011.10:85725350:T:C (self)
54776393, 30406426, 21538408, 149592676, 1117107, 11659840, 30406426, 6742903, ss225360100, ss235643414, ss242257745, ss342337515, ss491026558, ss491457060, ss562706563, ss658219538, ss974480637, ss988763367, ss1067526972, ss1077897995, ss1342221936, ss1426699279, ss1575838154, ss1584077261, ss1627075415, ss1670069448, ss1690573901, ss1711304218, ss1806912711, ss1932122043, ss1967409679, ss2026803240, ss2155115230, ss2347739300, ss2627874040, ss2699412585, ss2739293444, ss2748710847, ss2902355305, ss2984952149, ss3008476829, ss3023067034, ss3349703391, ss3646430848, ss3653724410, ss3675800160, ss3738374975, ss3749583532, ss3787012712, ss3792144026, ss3797026362 NC_000011.9:85436393:T:C NC_000011.10:85725350:T:C (self)
68407756, ss2184227223, ss3027199206, ss3151562610, ss3649659007, ss3692244667, ss3814915766 NC_000011.10:85725350:T:C NC_000011.10:85725350:T:C (self)
ss19917742, ss20772281 NT_033927.6:15635422:T:C NC_000011.10:85725350:T:C (self)
ss727709, ss1760806, ss1762293, ss1857338, ss1857359, ss5561314, ss38792618, ss69323100, ss74808469, ss97494718, ss106756405, ss132695203, ss137631458, ss156560381, ss159724477 NT_167190.1:30742188:T:C NC_000011.10:85725350:T:C (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 rs556669

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.post308+0fe9b3b