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rs113994145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994145(A;A)
Make rs113994145(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66851880
GenePC
is asnp
is mentioned by
dbSNPrs113994145
ebirs113994145
HLIrs113994145
Exacrs113994145
Varsomers113994145
Maprs113994145
PheGenIrs113994145
hapmaprs113994145
1000 genomesrs113994145
hgdprs113994145
ensemblrs113994145
gopubmedrs113994145
geneviewrs113994145
scholarrs113994145
googlers113994145
pharmgkbrs113994145
gwascentralrs113994145
openSNPrs113994145
23andMers113994145
23andMe allrs113994145
SNP Nexus

SNPshotrs113994145
SNPdbers113994145
MSV3drs113994145
GWAS Ctlgrs113994145
Max Magnitude0
ClinVar
Risk rs113994145(A;A)
Alt rs113994145(A;A)
Reference rs113994145(G;G)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66619351C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020384.2,