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rs113994141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994141(C;T)
Make rs113994141(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66871824
GenePC
is asnp
is mentioned by
dbSNPrs113994141
ebirs113994141
HLIrs113994141
Exacrs113994141
Varsomers113994141
Maprs113994141
PheGenIrs113994141
hapmaprs113994141
1000 genomesrs113994141
hgdprs113994141
ensemblrs113994141
gopubmedrs113994141
geneviewrs113994141
scholarrs113994141
googlers113994141
pharmgkbrs113994141
gwascentralrs113994141
openSNPrs113994141
23andMers113994141
23andMe allrs113994141
SNP Nexus

SNPshotrs113994141
SNPdbers113994141
MSV3drs113994141
GWAS Ctlgrs113994141
Max Magnitude0
ClinVar
Risk rs113994141(T;T)
Alt rs113994141(T;T)
Reference rs113994141(C;C)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66639295G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020383.2,