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rs267606670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606670(A;A)
Make rs267606670(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41968837
GeneATP1A3
is asnp
is mentioned by
dbSNPrs267606670
ebirs267606670
HLIrs267606670
Exacrs267606670
Varsomers267606670
Maprs267606670
PheGenIrs267606670
hapmaprs267606670
1000 genomesrs267606670
hgdprs267606670
ensemblrs267606670
gopubmedrs267606670
geneviewrs267606670
scholarrs267606670
googlers267606670
pharmgkbrs267606670
gwascentralrs267606670
openSNPrs267606670
23andMers267606670
23andMe allrs267606670
SNP Nexus

SNPshotrs267606670
SNPdbers267606670
MSV3drs267606670
GWAS Ctlgrs267606670
Max Magnitude0
ClinVar
Risk rs267606670(A,T;A,T)
Alt rs267606670(A,T;A,T)
Reference rs267606670(G;G)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 2 Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Alternating hemiplegia of childhood 2 Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42472989C>A; NC_000019.9:g.42472989C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148329.1, RCV000013778.21, RCV000128465.3,