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rs121918256

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918256(A;T)
Make rs121918256(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position49457789
GeneMUT
is asnp
is mentioned by
dbSNPrs121918256
ebirs121918256
HLIrs121918256
Exacrs121918256
Varsomers121918256
Maprs121918256
PheGenIrs121918256
hapmaprs121918256
1000 genomesrs121918256
hgdprs121918256
ensemblrs121918256
gopubmedrs121918256
geneviewrs121918256
scholarrs121918256
googlers121918256
pharmgkbrs121918256
gwascentralrs121918256
openSNPrs121918256
23andMers121918256
23andMe allrs121918256
SNP Nexus

SNPshotrs121918256
SNPdbers121918256
MSV3drs121918256
GWAS Ctlgrs121918256
Max Magnitude0
OMIM609058
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918256(T;T)
Alt rs121918256(T;T)
Reference rs121918256(A;A)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN METHYLMALONIC ACIDURIA, mut(0) TYPE not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49425502T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001963.2, RCV000186055.1, RCV000203309.2,