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rs534926223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs534926223(C;C)
Make rs534926223(C;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position41970490
GeneATP1A3
is asnp
is mentioned by
dbSNPrs534926223
ebirs534926223
HLIrs534926223
Exacrs534926223
Varsomers534926223
Maprs534926223
PheGenIrs534926223
hapmaprs534926223
1000 genomesrs534926223
hgdprs534926223
ensemblrs534926223
gopubmedrs534926223
geneviewrs534926223
scholarrs534926223
googlers534926223
pharmgkbrs534926223
gwascentralrs534926223
openSNPrs534926223
23andMers534926223
23andMe allrs534926223
SNP Nexus

SNPshotrs534926223
SNPdbers534926223
MSV3drs534926223
GWAS Ctlgrs534926223
Max Magnitude0
ClinVar
Risk rs534926223(C,T;C,T)
Alt rs534926223(C,T;C,T)
Reference rs534926223(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.42474642G>T
CLNSRC ClinVar
CLNACC RCV000148318.1,