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rs28940591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28940591(C;C)
Make rs28940591(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66871368
GenePC
is asnp
is mentioned by
dbSNPrs28940591
ebirs28940591
HLIrs28940591
Exacrs28940591
Varsomers28940591
Maprs28940591
PheGenIrs28940591
hapmaprs28940591
1000 genomesrs28940591
hgdprs28940591
ensemblrs28940591
gopubmedrs28940591
geneviewrs28940591
scholarrs28940591
googlers28940591
pharmgkbrs28940591
gwascentralrs28940591
openSNPrs28940591
23andMers28940591
23andMe allrs28940591
SNP Nexus

SNPshotrs28940591
SNPdbers28940591
MSV3drs28940591
GWAS Ctlgrs28940591
Max Magnitude0
OMIM608786
DescPYRUVATE CARBOXYLASE DEFICIENCY
Variant0003
Relatedalso
? (C;T) (T;T)
ClinVar
Risk rs28940591(C,G;C,G)
Alt rs28940591(C,G;C,G)
Reference rs28940591(T;T)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66638839A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002177.2,