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rs536681257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs536681257(A;T)
Make rs536681257(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position41970298
GeneATP1A3
is asnp
is mentioned by
dbSNPrs536681257
ebirs536681257
HLIrs536681257
Exacrs536681257
Varsomers536681257
Maprs536681257
PheGenIrs536681257
hapmaprs536681257
1000 genomesrs536681257
hgdprs536681257
ensemblrs536681257
gopubmedrs536681257
geneviewrs536681257
scholarrs536681257
googlers536681257
pharmgkbrs536681257
gwascentralrs536681257
openSNPrs536681257
23andMers536681257
23andMe allrs536681257
SNP Nexus

SNPshotrs536681257
SNPdbers536681257
MSV3drs536681257
GWAS Ctlgrs536681257
Max Magnitude0
ClinVar
Risk rs536681257(C,T;C,T)
Alt rs536681257(C,T;C,T)
Reference rs536681257(A;A)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 2
Variation info
Gene ATP1A3
CLNDBN Alternating hemiplegia of childhood 2
Reversed 0
HGVS NC_000019.9:g.42474450A>C
CLNSRC ClinVar
CLNACC RCV000148325.1,