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rs12175488

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs12175488(C;T)
Make rs12175488(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49456163
GeneMUT
is asnp
is mentioned by
dbSNPrs12175488
ebirs12175488
HLIrs12175488
Exacrs12175488
Varsomers12175488
Maprs12175488
PheGenIrs12175488
hapmaprs12175488
1000 genomesrs12175488
hgdprs12175488
ensemblrs12175488
gopubmedrs12175488
geneviewrs12175488
scholarrs12175488
googlers12175488
pharmgkbrs12175488
gwascentralrs12175488
openSNPrs12175488
23andMers12175488
23andMe allrs12175488
SNP Nexus

SNPshotrs12175488
SNPdbers12175488
MSV3drs12175488
GWAS Ctlgrs12175488
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs12175488(T;T)
Alt rs12175488(T;T)
Reference rs12175488(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 0
HGVS NC_000006.11:g.49423876C>G
CLNSRC
CLNACC RCV000236687.1,