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rs606231442

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231442(A;A)
Make rs606231442(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41969523
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231442
ebirs606231442
HLIrs606231442
Exacrs606231442
Varsomers606231442
Maprs606231442
PheGenIrs606231442
hapmaprs606231442
1000 genomesrs606231442
hgdprs606231442
ensemblrs606231442
gopubmedrs606231442
geneviewrs606231442
scholarrs606231442
googlers606231442
pharmgkbrs606231442
gwascentralrs606231442
openSNPrs606231442
23andMers606231442
23andMe allrs606231442
SNP Nexus

SNPshotrs606231442
SNPdbers606231442
MSV3drs606231442
GWAS Ctlgrs606231442
Max Magnitude0
ClinVar
Risk rs606231442(A;A)
Alt rs606231442(A;A)
Reference rs606231442(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.42473675C>T
CLNSRC
CLNACC RCV000148327.1,