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rs397515578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTG;CTG) 0 common in clinvar
Make rs397515578(-;-)
Make rs397515578(-;CTG)
ReferenceGRCh38 38.1/141
Chromosome19
Position41984933
GeneATP1A3
is asnp
is mentioned by
dbSNPrs397515578
ebirs397515578
HLIrs397515578
Exacrs397515578
Varsomers397515578
Maprs397515578
PheGenIrs397515578
hapmaprs397515578
1000 genomesrs397515578
hgdprs397515578
ensemblrs397515578
gopubmedrs397515578
geneviewrs397515578
scholarrs397515578
googlers397515578
pharmgkbrs397515578
gwascentralrs397515578
openSNPrs397515578
23andMers397515578
23andMe allrs397515578
SNP Nexus

SNPshotrs397515578
SNPdbers397515578
MSV3drs397515578
GWAS Ctlgrs397515578
Max Magnitude0
ClinVar
Risk rs397515578(;)
Alt rs397515578(;)
Reference rs397515578(CTG;CTG)
Significance Pathogenic
Disease Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42489082_42489084delCAG
CLNSRC GeneReviews
CLNACC RCV000148307.1,