rs60637
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs60637(A;A) |
Make rs60637(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 51806958 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs60637 |
dbSNP (classic) | rs60637 |
ClinGen | rs60637 |
ebi | rs60637 |
HLI | rs60637 |
Exac | rs60637 |
Gnomad | rs60637 |
Varsome | rs60637 |
LitVar | rs60637 |
Map | rs60637 |
PheGenI | rs60637 |
Biobank | rs60637 |
1000 genomes | rs60637 |
hgdp | rs60637 |
ensembl | rs60637 |
geneview | rs60637 |
scholar | rs60637 |
rs60637 | |
pharmgkb | rs60637 |
gwascentral | rs60637 |
openSNP | rs60637 |
23andMe | rs60637 |
SNPshot | rs60637 |
SNPdbe | rs60637 |
MSV3d | rs60637 |
GWAS Ctlg | rs60637 |
GMAF | 0.4279 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
[PMID 18812204] SCN8A as a novel candidate gene associated with bipolar disorder in the Han Chinese population
ClinVar | |
---|---|
Risk | rs60637(A;A) rs60637(G;G) rs60637(T;T) |
Alt | rs60637(A;A) rs60637(G;G) rs60637(T;T) |
Reference | Rs60637(C;C) |
Significance | Other |
Disease | not specified Early Infantile Epileptic Encephalopathy |
Variation | info |
Gene | SCN8A |
CLNDBN | not specified Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.52200742C>A; NC_000012.11:g.52200742C>G |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000118287.4, RCV000268450.1, RCV000440782.1, |