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rs397515382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515382(-;-)
Make rs397515382(-;ACT)
Make rs397515382(ACT;ACT)
ReferenceGRCh38 38.1/141
Chromosome19
Position41966938
GeneATP1A3
is asnp
is mentioned by
dbSNPrs397515382
ebirs397515382
HLIrs397515382
Exacrs397515382
Varsomers397515382
Maprs397515382
PheGenIrs397515382
hapmaprs397515382
1000 genomesrs397515382
hgdprs397515382
ensemblrs397515382
gopubmedrs397515382
geneviewrs397515382
scholarrs397515382
googlers397515382
pharmgkbrs397515382
gwascentralrs397515382
openSNPrs397515382
23andMers397515382
23andMe allrs397515382
SNP Nexus

SNPshotrs397515382
SNPdbers397515382
MSV3drs397515382
GWAS Ctlgrs397515382
Max Magnitude0
ClinVar
Risk rs397515382(ACT;ACT)
Alt rs397515382(ACT;ACT)
Reference rs397515382(;)
Significance Pathogenic
Disease Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42471091_42471093dupAGT
CLNSRC ClinVar
CLNACC RCV000148335.1,