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rs542652468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs542652468(G;T)
Make rs542652468(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position41986177
GeneATP1A3
is asnp
is mentioned by
dbSNPrs542652468
ebirs542652468
HLIrs542652468
Exacrs542652468
Varsomers542652468
Maprs542652468
PheGenIrs542652468
hapmaprs542652468
1000 genomesrs542652468
hgdprs542652468
ensemblrs542652468
gopubmedrs542652468
geneviewrs542652468
scholarrs542652468
googlers542652468
pharmgkbrs542652468
gwascentralrs542652468
openSNPrs542652468
23andMers542652468
23andMe allrs542652468
SNP Nexus

SNPshotrs542652468
SNPdbers542652468
MSV3drs542652468
GWAS Ctlgrs542652468
Max Magnitude0
ClinVar
Risk rs542652468(A,T;A,T)
Alt rs542652468(A,T;A,T)
Reference rs542652468(G;G)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 2
Variation info
Gene ATP1A3
CLNDBN Alternating hemiplegia of childhood 2
Reversed 0
HGVS NC_000019.9:g.42490329G>A; NC_000019.9:g.42490329G>T
CLNSRC ClinVar
CLNACC RCV000148303.1, RCV000148302.1,