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rs113994143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994143(C;T)
Make rs113994143(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66863791
GenePC
is asnp
is mentioned by
dbSNPrs113994143
dbSNP (old)rs113994143
ClinGenrs113994143
ebirs113994143
HLIrs113994143
Exacrs113994143
Gnomadrs113994143
Varsomers113994143
Maprs113994143
PheGenIrs113994143
Biobankrs113994143
1000 genomesrs113994143
hgdprs113994143
ensemblrs113994143
gopubmedrs113994143
geneviewrs113994143
scholarrs113994143
googlers113994143
pharmgkbrs113994143
gwascentralrs113994143
openSNPrs113994143
23andMers113994143
23andMe allrs113994143
SNP Nexus

SNPshotrs113994143
SNPdbers113994143
MSV3drs113994143
GWAS Ctlgrs113994143
Max Magnitude0
OMIM608786
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994143(T;T)
Alt rs113994143(T;T)
Reference Rs113994143(C;C)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66631262G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002178.2,