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rs121918518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918518(C;G)
Make rs121918518(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889655
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918518
dbSNP (classic)rs121918518
ClinGenrs121918518
ebirs121918518
HLIrs121918518
Exacrs121918518
Gnomadrs121918518
Varsomers121918518
LitVarrs121918518
Maprs121918518
PheGenIrs121918518
Biobankrs121918518
1000 genomesrs121918518
hgdprs121918518
ensemblrs121918518
geneviewrs121918518
scholarrs121918518
googlers121918518
pharmgkbrs121918518
gwascentralrs121918518
openSNPrs121918518
23andMers121918518
SNPshotrs121918518
SNPdbers121918518
MSV3drs121918518
GWAS Ctlgrs121918518
Max Magnitude0
OMIM176980
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918518(G;G)
Alt rs121918518(G;G)
Reference Rs121918518(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392909C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014156.26,