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rs606231438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231438(C;T)
Make rs606231438(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41970395
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231438
dbSNP (classic)rs606231438
ClinGenrs606231438
ebirs606231438
HLIrs606231438
Exacrs606231438
Gnomadrs606231438
Varsomers606231438
LitVarrs606231438
Maprs606231438
PheGenIrs606231438
Biobankrs606231438
1000 genomesrs606231438
hgdprs606231438
ensemblrs606231438
geneviewrs606231438
scholarrs606231438
googlers606231438
pharmgkbrs606231438
gwascentralrs606231438
openSNPrs606231438
23andMers606231438
SNPshotrs606231438
SNPdbers606231438
MSV3drs606231438
GWAS Ctlgrs606231438
Max Magnitude0
ClinVar
Risk rs606231438(T;T)
Alt rs606231438(T;T)
Reference Rs606231438(C;C)
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.42474547G>A
CLNSRC
CLNACC RCV000148321.1,