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rs606231437

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231437(A;G)
Make rs606231437(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41970488
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231437
ebirs606231437
HLIrs606231437
Exacrs606231437
Varsomers606231437
Maprs606231437
PheGenIrs606231437
hapmaprs606231437
1000 genomesrs606231437
hgdprs606231437
ensemblrs606231437
gopubmedrs606231437
geneviewrs606231437
scholarrs606231437
googlers606231437
pharmgkbrs606231437
gwascentralrs606231437
openSNPrs606231437
23andMers606231437
23andMe allrs606231437
SNP Nexus

SNPshotrs606231437
SNPdbers606231437
MSV3drs606231437
GWAS Ctlgrs606231437
Max Magnitude0
ClinVar
Risk rs606231437(G,T;G,T)
Alt rs606231437(G,T;G,T)
Reference rs606231437(A;A)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 2
Variation info
Gene ATP1A3
CLNDBN Alternating hemiplegia of childhood 2
Reversed 1
HGVS NC_000019.9:g.42474640T>A; NC_000019.9:g.42474640T>C
CLNSRC
CLNACC RCV000148320.1, RCV000148319.1,