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rs119103241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103241(A;A)
Make rs119103241(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66871335
GenePC
is asnp
is mentioned by
dbSNPrs119103241
ebirs119103241
HLIrs119103241
Exacrs119103241
Varsomers119103241
Maprs119103241
PheGenIrs119103241
hapmaprs119103241
1000 genomesrs119103241
hgdprs119103241
ensemblrs119103241
gopubmedrs119103241
geneviewrs119103241
scholarrs119103241
googlers119103241
pharmgkbrs119103241
gwascentralrs119103241
openSNPrs119103241
23andMers119103241
23andMe allrs119103241
SNP Nexus

SNPshotrs119103241
SNPdbers119103241
MSV3drs119103241
GWAS Ctlgrs119103241
Max Magnitude0
OMIM608786
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119103241(A;A)
Alt rs119103241(A;A)
Reference rs119103241(G;G)
Significance Pathogenic
Disease Pyruvate carboxylase deficiency
Variation info
Gene PC
CLNDBN Pyruvate carboxylase deficiency
Reversed 1
HGVS NC_000011.9:g.66638806C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002181.2,