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rs121918515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918515(A;G)
Make rs121918515(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889732
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918515
ebirs121918515
HLIrs121918515
Exacrs121918515
Varsomers121918515
Maprs121918515
PheGenIrs121918515
hapmaprs121918515
1000 genomesrs121918515
hgdprs121918515
ensemblrs121918515
gopubmedrs121918515
geneviewrs121918515
scholarrs121918515
googlers121918515
pharmgkbrs121918515
gwascentralrs121918515
openSNPrs121918515
23andMers121918515
23andMe allrs121918515
SNP Nexus

SNPshotrs121918515
SNPdbers121918515
MSV3drs121918515
GWAS Ctlgrs121918515
Max Magnitude0
OMIM176980
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918515(G;G)
Alt rs121918515(G;G)
Reference rs121918515(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392986A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014153.24,


[PMID 14676051] Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.