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rs113994142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994142(A;A)
Make rs113994142(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66870409
GenePC
is asnp
is mentioned by
dbSNPrs113994142
ebirs113994142
HLIrs113994142
Exacrs113994142
Varsomers113994142
Maprs113994142
PheGenIrs113994142
hapmaprs113994142
1000 genomesrs113994142
hgdprs113994142
ensemblrs113994142
gopubmedrs113994142
geneviewrs113994142
scholarrs113994142
googlers113994142
pharmgkbrs113994142
gwascentralrs113994142
openSNPrs113994142
23andMers113994142
23andMe allrs113994142
SNP Nexus

SNPshotrs113994142
SNPdbers113994142
MSV3drs113994142
GWAS Ctlgrs113994142
Max Magnitude0
ClinVar
Risk rs113994142(A,C;A,C)
Alt rs113994142(A,C;A,C)
Reference rs113994142(T;T)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66637880A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020392.2,