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rs863224847

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224847(A;A)
Make rs863224847(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41984937
GeneATP1A3
is asnp
is mentioned by
dbSNPrs863224847
ebirs863224847
HLIrs863224847
Exacrs863224847
Varsomers863224847
Maprs863224847
PheGenIrs863224847
hapmaprs863224847
1000 genomesrs863224847
hgdprs863224847
ensemblrs863224847
gopubmedrs863224847
geneviewrs863224847
scholarrs863224847
googlers863224847
pharmgkbrs863224847
gwascentralrs863224847
openSNPrs863224847
23andMers863224847
23andMe allrs863224847
SNP Nexus

SNPshotrs863224847
SNPdbers863224847
MSV3drs863224847
GWAS Ctlgrs863224847
Max Magnitude0
ClinVar
Risk rs863224847(A;A)
Alt rs863224847(A;A)
Reference rs863224847(G;G)
Significance Probable-Pathogenic
Disease Cerebellar ataxia
Variation info
Gene ATP1A3
CLNDBN Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Reversed 1
HGVS NC_000019.9:g.42489089C>T
CLNSRC
CLNACC RCV000199314.1,