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rs113994147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994147(C;T)
Make rs113994147(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66850398
GenePC
is asnp
is mentioned by
dbSNPrs113994147
ebirs113994147
HLIrs113994147
Exacrs113994147
Varsomers113994147
Maprs113994147
PheGenIrs113994147
hapmaprs113994147
1000 genomesrs113994147
hgdprs113994147
ensemblrs113994147
gopubmedrs113994147
geneviewrs113994147
scholarrs113994147
googlers113994147
pharmgkbrs113994147
gwascentralrs113994147
openSNPrs113994147
23andMers113994147
23andMe allrs113994147
SNP Nexus

SNPshotrs113994147
SNPdbers113994147
MSV3drs113994147
GWAS Ctlgrs113994147
Max Magnitude0
ClinVar
Risk rs113994147(T;T)
Alt rs113994147(T;T)
Reference rs113994147(C;C)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66617869G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020388.2,