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rs28940590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940590(G;T)
Make rs28940590(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66850918
GenePC
is asnp
is mentioned by
dbSNPrs28940590
ebirs28940590
HLIrs28940590
Exacrs28940590
Varsomers28940590
Maprs28940590
PheGenIrs28940590
hapmaprs28940590
1000 genomesrs28940590
hgdprs28940590
ensemblrs28940590
gopubmedrs28940590
geneviewrs28940590
scholarrs28940590
googlers28940590
pharmgkbrs28940590
gwascentralrs28940590
openSNPrs28940590
23andMers28940590
23andMe allrs28940590
SNP Nexus

SNPshotrs28940590
SNPdbers28940590
MSV3drs28940590
GWAS Ctlgrs28940590
Max Magnitude0
OMIM608786
DescPYRUVATE CARBOXYLASE DEFICIENCY
Variant0002
Relatedalso


ClinVar
Risk rs28940590(T;T)
Alt rs28940590(T;T)
Reference rs28940590(G;G)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66618389C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002176.2,