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rs606231431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231431(A;C)
Make rs606231431(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position41982097
GeneATP1A3
is asnp
is mentioned by
dbSNPrs606231431
ClinGenrs606231431
ebirs606231431
HLIrs606231431
Exacrs606231431
Varsomers606231431
Maprs606231431
PheGenIrs606231431
hapmaprs606231431
1000 genomesrs606231431
hgdprs606231431
ensemblrs606231431
gopubmedrs606231431
geneviewrs606231431
scholarrs606231431
googlers606231431
pharmgkbrs606231431
gwascentralrs606231431
openSNPrs606231431
23andMers606231431
23andMe allrs606231431
SNP Nexus

SNPshotrs606231431
SNPdbers606231431
MSV3drs606231431
GWAS Ctlgrs606231431
Max Magnitude0
ClinVar
Risk rs606231431(C;C)
Alt rs606231431(C;C)
Reference Rs606231431(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.42486249T>G
CLNSRC
CLNACC RCV000148309.1,