Have questions? Visit https://www.reddit.com/r/SNPedia

rs386134158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134158(C;C)
Make rs386134158(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53882616
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134158
dbSNP (classic)rs386134158
ClinGenrs386134158
ebirs386134158
HLIrs386134158
Exacrs386134158
Gnomadrs386134158
Varsomers386134158
LitVarrs386134158
Maprs386134158
PheGenIrs386134158
Biobankrs386134158
1000 genomesrs386134158
hgdprs386134158
ensemblrs386134158
geneviewrs386134158
scholarrs386134158
googlers386134158
pharmgkbrs386134158
gwascentralrs386134158
openSNPrs386134158
23andMers386134158
SNPshotrs386134158
SNPdbers386134158
MSV3drs386134158
GWAS Ctlgrs386134158
Max Magnitude0
ClinVar
Risk rs386134158(C;C)
Alt rs386134158(C;C)
Reference Rs386134158(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54385870G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034959.1,


[PMID 15824357] The clinical and genetic spectrum of spinocerebellar ataxia 14.