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rs113994148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs113994148(-;-)
Make rs113994148(-;CT)
ReferenceGRCh38 38.1/141
Chromosome11
Position66849026
GenePC
is asnp
is mentioned by
dbSNPrs113994148
ebirs113994148
HLIrs113994148
Exacrs113994148
Varsomers113994148
Maprs113994148
PheGenIrs113994148
hapmaprs113994148
1000 genomesrs113994148
hgdprs113994148
ensemblrs113994148
gopubmedrs113994148
geneviewrs113994148
scholarrs113994148
googlers113994148
pharmgkbrs113994148
gwascentralrs113994148
openSNPrs113994148
23andMers113994148
23andMe allrs113994148
SNP Nexus

SNPshotrs113994148
SNPdbers113994148
MSV3drs113994148
GWAS Ctlgrs113994148
Max Magnitude0
ClinVar
Risk rs113994148(;)
Alt rs113994148(;)
Reference rs113994148(CT;CT)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66616497_66616498delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020391.2,