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rs60637

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60637(A;A)
Make rs60637(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position51806958
GeneSCN8A
is asnp
is mentioned by
dbSNPrs60637
dbSNP (classic)rs60637
ClinGenrs60637
ebirs60637
HLIrs60637
Exacrs60637
Gnomadrs60637
Varsomers60637
LitVarrs60637
Maprs60637
PheGenIrs60637
Biobankrs60637
1000 genomesrs60637
hgdprs60637
ensemblrs60637
geneviewrs60637
scholarrs60637
googlers60637
pharmgkbrs60637
gwascentralrs60637
openSNPrs60637
23andMers60637
SNPshotrs60637
SNPdbers60637
MSV3drs60637
GWAS Ctlgrs60637
GMAF0.4279
Max Magnitude0
? (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,