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rs267606695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606695(C;C)
Make rs267606695(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position60266044
GeneCA8
is asnp
is mentioned by
dbSNPrs267606695
ebirs267606695
HLIrs267606695
Exacrs267606695
Varsomers267606695
Maprs267606695
PheGenIrs267606695
hapmaprs267606695
1000 genomesrs267606695
hgdprs267606695
ensemblrs267606695
gopubmedrs267606695
geneviewrs267606695
scholarrs267606695
googlers267606695
pharmgkbrs267606695
gwascentralrs267606695
openSNPrs267606695
23andMers267606695
23andMe allrs267606695
SNP Nexus

SNPshotrs267606695
SNPdbers267606695
MSV3drs267606695
GWAS Ctlgrs267606695
Max Magnitude0
ClinVar
Risk rs267606695(C;C)
Alt rs267606695(C;C)
Reference rs267606695(T;T)
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.61178603A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019170.24,