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rs760108147

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760108147(C;T)
Make rs760108147(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position66851168
GenePC
is asnp
is mentioned by
dbSNPrs760108147
ebirs760108147
HLIrs760108147
Exacrs760108147
Varsomers760108147
Maprs760108147
PheGenIrs760108147
hapmaprs760108147
1000 genomesrs760108147
hgdprs760108147
ensemblrs760108147
gopubmedrs760108147
geneviewrs760108147
scholarrs760108147
googlers760108147
pharmgkbrs760108147
gwascentralrs760108147
openSNPrs760108147
23andMers760108147
23andMe allrs760108147
SNP Nexus

SNPshotrs760108147
SNPdbers760108147
MSV3drs760108147
GWAS Ctlgrs760108147
Max Magnitude0
ClinVar
Risk rs760108147(T;T)
Alt rs760108147(T;T)
Reference rs760108147(C;C)
Significance Probable-Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 0
HGVS NC_000011.9:g.66618639C>A; NC_000011.9:g.66618639C>T
CLNSRC
CLNACC RCV000207120.1,