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rs113994146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994146(A;A)
Make rs113994146(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position66851149
GenePC
is asnp
is mentioned by
dbSNPrs113994146
ebirs113994146
HLIrs113994146
Exacrs113994146
Varsomers113994146
Maprs113994146
PheGenIrs113994146
hapmaprs113994146
1000 genomesrs113994146
hgdprs113994146
ensemblrs113994146
gopubmedrs113994146
geneviewrs113994146
scholarrs113994146
googlers113994146
pharmgkbrs113994146
gwascentralrs113994146
openSNPrs113994146
23andMers113994146
23andMe allrs113994146
SNP Nexus

SNPshotrs113994146
SNPdbers113994146
MSV3drs113994146
GWAS Ctlgrs113994146
Max Magnitude0
ClinVar
Risk rs113994146(A;A)
Alt rs113994146(A;A)
Reference rs113994146(C;C)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66618620G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020385.2,