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rs113994144

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994144(A;G)
Make rs113994144(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66852559
GenePC
is asnp
is mentioned by
dbSNPrs113994144
ebirs113994144
HLIrs113994144
Exacrs113994144
Varsomers113994144
Maprs113994144
PheGenIrs113994144
hapmaprs113994144
1000 genomesrs113994144
hgdprs113994144
ensemblrs113994144
gopubmedrs113994144
geneviewrs113994144
scholarrs113994144
googlers113994144
pharmgkbrs113994144
gwascentralrs113994144
openSNPrs113994144
23andMers113994144
23andMe allrs113994144
SNP Nexus

SNPshotrs113994144
SNPdbers113994144
MSV3drs113994144
GWAS Ctlgrs113994144
Max Magnitude0
ClinVar
Risk rs113994144(G;G)
Alt rs113994144(G;G)
Reference rs113994144(A;A)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66620030T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020382.2,