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rs121918252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 8.8 Methylmalonic aciduria (predicted)
ReferenceGRCh38 38.1/141
Chromosome6
Position49431831
GeneMUT
is asnp
is mentioned by
dbSNPrs121918252
dbSNP (old)rs121918252
ClinGenrs121918252
ebirs121918252
HLIrs121918252
Exacrs121918252
Gnomadrs121918252
Varsomers121918252
Maprs121918252
PheGenIrs121918252
Biobankrs121918252
1000 genomesrs121918252
hgdprs121918252
ensemblrs121918252
gopubmedrs121918252
geneviewrs121918252
scholarrs121918252
googlers121918252
pharmgkbrs121918252
gwascentralrs121918252
openSNPrs121918252
23andMers121918252
23andMe allrs121918252
SNP Nexus

SNPshotrs121918252
SNPdbers121918252
MSV3drs121918252
GWAS Ctlgrs121918252
Max Magnitude8.8

aka c.2150G>T, p.Gly717Val, G717V; p.Gly717Val is reported to be observed in 41% of affected African Americans and Nigerians associated with a mut- phenotype.

23andMe name: i5000070

OMIM609058
Desc
Variant0005
Relatedalso
ClinVar
Risk Rs121918252(T;T)
Alt Rs121918252(T;T)
Reference Rs121918252(G;G)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN METHYLMALONIC ACIDURIA, mut(-) TYPE not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49399544C>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001958.2, RCV000078445.3, RCV000174456.2,