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rs606231436

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231436(C;C)
Make rs606231436(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41970536
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231436
dbSNP (classic)rs606231436
ClinGenrs606231436
ebirs606231436
HLIrs606231436
Exacrs606231436
Gnomadrs606231436
Varsomers606231436
LitVarrs606231436
Maprs606231436
PheGenIrs606231436
Biobankrs606231436
1000 genomesrs606231436
hgdprs606231436
ensemblrs606231436
geneviewrs606231436
scholarrs606231436
googlers606231436
pharmgkbrs606231436
gwascentralrs606231436
openSNPrs606231436
23andMers606231436
SNPshotrs606231436
SNPdbers606231436
MSV3drs606231436
GWAS Ctlgrs606231436
Max Magnitude0
ClinVar
Risk rs606231436(C;C)
Alt rs606231436(C;C)
Reference Rs606231436(T;T)
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.42474688A>G
CLNSRC
CLNACC RCV000148316.1,