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rs557939077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs557939077(A;A)
Make rs557939077(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position41970494
GeneATP1A3
is asnp
is mentioned by
dbSNPrs557939077
ebirs557939077
HLIrs557939077
Exacrs557939077
Varsomers557939077
Maprs557939077
PheGenIrs557939077
hapmaprs557939077
1000 genomesrs557939077
hgdprs557939077
ensemblrs557939077
gopubmedrs557939077
geneviewrs557939077
scholarrs557939077
googlers557939077
pharmgkbrs557939077
gwascentralrs557939077
openSNPrs557939077
23andMers557939077
23andMe allrs557939077
SNP Nexus

SNPshotrs557939077
SNPdbers557939077
MSV3drs557939077
GWAS Ctlgrs557939077
Max Magnitude0
ClinVar
Risk rs557939077(A,T;A,T)
Alt rs557939077(A,T;A,T)
Reference rs557939077(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.42474646G>T
CLNSRC ClinVar
CLNACC RCV000148317.1,