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rs121918306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918306(C;C)
Make rs121918306(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66713645
GeneSPTBN2
is asnp
is mentioned by
dbSNPrs121918306
ebirs121918306
HLIrs121918306
Exacrs121918306
Varsomers121918306
Maprs121918306
PheGenIrs121918306
hapmaprs121918306
1000 genomesrs121918306
hgdprs121918306
ensemblrs121918306
gopubmedrs121918306
geneviewrs121918306
scholarrs121918306
googlers121918306
pharmgkbrs121918306
gwascentralrs121918306
openSNPrs121918306
23andMers121918306
23andMe allrs121918306
SNP Nexus

SNPshotrs121918306
SNPdbers121918306
MSV3drs121918306
GWAS Ctlgrs121918306
Max Magnitude0
OMIM604985
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918306(C;C)
Alt rs121918306(C;C)
Reference rs121918306(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 5
Variation info
Gene SPTBN2
CLNDBN Spinocerebellar ataxia 5
Reversed 1
HGVS NC_000011.9:g.66481116A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005593.4,