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rs121918253

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
Position49459118
GeneMUT
is asnp
is mentioned by
dbSNPrs121918253
dbSNP (old)rs121918253
ClinGenrs121918253
ebirs121918253
HLIrs121918253
Exacrs121918253
Gnomadrs121918253
Varsomers121918253
Maprs121918253
PheGenIrs121918253
Biobankrs121918253
1000 genomesrs121918253
hgdprs121918253
ensemblrs121918253
gopubmedrs121918253
geneviewrs121918253
scholarrs121918253
googlers121918253
pharmgkbrs121918253
gwascentralrs121918253
openSNPrs121918253
23andMers121918253
23andMe allrs121918253
SNP Nexus

SNPshotrs121918253
SNPdbers121918253
MSV3drs121918253
GWAS Ctlgrs121918253
Max Magnitude8.8

aka c.349G>T, p.Glu117Ter or E117X; pathogenic variant seen in Japan

23andMe name: i5000072

OMIM609058
Desc
Variant0006
Relatedalso
ClinVar
Risk Rs121918253(T;T)
Alt Rs121918253(T;T)
Reference Rs121918253(G;G)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA
Variation info
Gene MUT
CLNDBN METHYLMALONIC ACIDURIA, mut(-) TYPE
Reversed 1
HGVS NC_000006.11:g.49426831C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001959.2,