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rs387906679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906679(G;T)
Make rs387906679(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53900612
GenePRKCG
is asnp
is mentioned by
dbSNPrs387906679
dbSNP (classic)rs387906679
ClinGenrs387906679
ebirs387906679
HLIrs387906679
Exacrs387906679
Gnomadrs387906679
Varsomers387906679
LitVarrs387906679
Maprs387906679
PheGenIrs387906679
Biobankrs387906679
1000 genomesrs387906679
hgdprs387906679
ensemblrs387906679
geneviewrs387906679
scholarrs387906679
googlers387906679
pharmgkbrs387906679
gwascentralrs387906679
openSNPrs387906679
23andMers387906679
SNPshotrs387906679
SNPdbers387906679
MSV3drs387906679
GWAS Ctlgrs387906679
Max Magnitude0
ClinVar
Risk rs387906679(T;T)
Alt rs387906679(T;T)
Reference Rs387906679(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54403866G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022737.26,