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rs78437096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs78437096(G;G)
Make rs78437096(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53906876
GenePRKCG
is asnp
is mentioned by
dbSNPrs78437096
ebirs78437096
HLIrs78437096
Exacrs78437096
Varsomers78437096
Maprs78437096
PheGenIrs78437096
hapmaprs78437096
1000 genomesrs78437096
hgdprs78437096
ensemblrs78437096
gopubmedrs78437096
geneviewrs78437096
scholarrs78437096
googlers78437096
pharmgkbrs78437096
gwascentralrs78437096
openSNPrs78437096
23andMers78437096
23andMe allrs78437096
SNP Nexus

SNPshotrs78437096
SNPdbers78437096
MSV3drs78437096
GWAS Ctlgrs78437096
Max Magnitude0
ClinVar
Risk rs78437096(C,G;C,G)
Alt rs78437096(C,G;C,G)
Reference rs78437096(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54410130T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034972.2,


[PMID 16193476] New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.