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rs28940589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940589(A;A)
Make rs28940589(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66851944
GenePC
is asnp
is mentioned by
dbSNPrs28940589
ebirs28940589
HLIrs28940589
Exacrs28940589
Varsomers28940589
Maprs28940589
PheGenIrs28940589
hapmaprs28940589
1000 genomesrs28940589
hgdprs28940589
ensemblrs28940589
gopubmedrs28940589
geneviewrs28940589
scholarrs28940589
googlers28940589
pharmgkbrs28940589
gwascentralrs28940589
openSNPrs28940589
23andMers28940589
23andMe allrs28940589
SNP Nexus

SNPshotrs28940589
SNPdbers28940589
MSV3drs28940589
GWAS Ctlgrs28940589
Max Magnitude0
OMIM608786
DescPYRUVATE CARBOXYLASE DEFICIENCY
Variant0001
Relatedalso


ClinVar
Risk rs28940589(A;A)
Alt rs28940589(A;A)
Reference rs28940589(G;G)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66619415C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002175.2,