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rs119103242

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103242(G;T)
Make rs119103242(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66852516
GenePC
is asnp
is mentioned by
dbSNPrs119103242
ebirs119103242
HLIrs119103242
Exacrs119103242
Varsomers119103242
Maprs119103242
PheGenIrs119103242
hapmaprs119103242
1000 genomesrs119103242
hgdprs119103242
ensemblrs119103242
gopubmedrs119103242
geneviewrs119103242
scholarrs119103242
googlers119103242
pharmgkbrs119103242
gwascentralrs119103242
openSNPrs119103242
23andMers119103242
23andMe allrs119103242
SNP Nexus

SNPshotrs119103242
SNPdbers119103242
MSV3drs119103242
GWAS Ctlgrs119103242
Max Magnitude0
OMIM608786
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119103242(A,T;A,T)
Alt rs119103242(A,T;A,T)
Reference rs119103242(G;G)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66619987C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002182.2,