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rs386134163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134163(C;T)
Make rs386134163(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889708
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134163
ebirs386134163
HLIrs386134163
Exacrs386134163
Varsomers386134163
Maprs386134163
PheGenIrs386134163
hapmaprs386134163
1000 genomesrs386134163
hgdprs386134163
ensemblrs386134163
gopubmedrs386134163
geneviewrs386134163
scholarrs386134163
googlers386134163
pharmgkbrs386134163
gwascentralrs386134163
openSNPrs386134163
23andMers386134163
23andMe allrs386134163
SNP Nexus

SNPshotrs386134163
SNPdbers386134163
MSV3drs386134163
GWAS Ctlgrs386134163
Max Magnitude0
ClinVar
Risk rs386134163(T;T)
Alt rs386134163(T;T)
Reference rs386134163(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392962C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034990.2,


[PMID 16763984] Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.