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rs121918257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918257(C;T)
Make rs121918257(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position49459145
GeneMUT
is asnp
is mentioned by
dbSNPrs121918257
ebirs121918257
HLIrs121918257
Exacrs121918257
Varsomers121918257
Maprs121918257
PheGenIrs121918257
hapmaprs121918257
1000 genomesrs121918257
hgdprs121918257
ensemblrs121918257
gopubmedrs121918257
geneviewrs121918257
scholarrs121918257
googlers121918257
pharmgkbrs121918257
gwascentralrs121918257
openSNPrs121918257
23andMers121918257
23andMe allrs121918257
SNP Nexus

SNPshotrs121918257
SNPdbers121918257
MSV3drs121918257
GWAS Ctlgrs121918257
GMAF0.0004591
Max Magnitude0
OMIM609058
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918257(T;T)
Alt rs121918257(T;T)
Reference rs121918257(C;C)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49426858G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001964.2, RCV000197802.1, RCV000203340.1,