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rs121918516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918516(C;C)
Make rs121918516(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53906728
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918516
ebirs121918516
HLIrs121918516
Exacrs121918516
Varsomers121918516
Maprs121918516
PheGenIrs121918516
hapmaprs121918516
1000 genomesrs121918516
hgdprs121918516
ensemblrs121918516
gopubmedrs121918516
geneviewrs121918516
scholarrs121918516
googlers121918516
pharmgkbrs121918516
gwascentralrs121918516
openSNPrs121918516
23andMers121918516
23andMe allrs121918516
SNP Nexus

SNPshotrs121918516
SNPdbers121918516
MSV3drs121918516
GWAS Ctlgrs121918516
Max Magnitude0
OMIM176980
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918516(C;C)
Alt rs121918516(C;C)
Reference rs121918516(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54409982T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014154.24,