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rs546968533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs546968533(C;G)
Make rs546968533(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position25553863
GeneATP8A2
is asnp
is mentioned by
dbSNPrs546968533
ebirs546968533
HLIrs546968533
Exacrs546968533
Varsomers546968533
Maprs546968533
PheGenIrs546968533
hapmaprs546968533
1000 genomesrs546968533
hgdprs546968533
ensemblrs546968533
gopubmedrs546968533
geneviewrs546968533
scholarrs546968533
googlers546968533
pharmgkbrs546968533
gwascentralrs546968533
openSNPrs546968533
23andMers546968533
23andMe allrs546968533
SNP Nexus

SNPshotrs546968533
SNPdbers546968533
MSV3drs546968533
GWAS Ctlgrs546968533
Max Magnitude0
ClinVar
Risk rs546968533(G,T;G,T)
Alt rs546968533(G,T;G,T)
Reference rs546968533(C;C)
Significance Pathogenic
Disease Cerebellar ataxia
Variation info
Gene ATP8A2
CLNDBN Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Reversed 0
HGVS NC_000013.10:g.26128001C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043652.2,