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rs387906598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906598(A;A)
Make rs387906598(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position60222677
GeneCA8
is asnp
is mentioned by
dbSNPrs387906598
ebirs387906598
HLIrs387906598
Exacrs387906598
Varsomers387906598
Maprs387906598
PheGenIrs387906598
hapmaprs387906598
1000 genomesrs387906598
hgdprs387906598
ensemblrs387906598
gopubmedrs387906598
geneviewrs387906598
scholarrs387906598
googlers387906598
pharmgkbrs387906598
gwascentralrs387906598
openSNPrs387906598
23andMers387906598
23andMe allrs387906598
SNP Nexus

SNPshotrs387906598
SNPdbers387906598
MSV3drs387906598
GWAS Ctlgrs387906598
Max Magnitude0
ClinVar
Risk rs387906598(A;A)
Alt rs387906598(A;A)
Reference rs387906598(G;G)
Significance Pathogenic
Disease Cerebellar ataxia
Variation info
Gene CA8
CLNDBN Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
Reversed 1
HGVS NC_000008.10:g.61135236C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022460.23,