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rs121918249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918249(C;C)
Make rs121918249(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position49459154
GeneMUT
is asnp
is mentioned by
dbSNPrs121918249
ebirs121918249
HLIrs121918249
Exacrs121918249
Varsomers121918249
Maprs121918249
PheGenIrs121918249
hapmaprs121918249
1000 genomesrs121918249
hgdprs121918249
ensemblrs121918249
gopubmedrs121918249
geneviewrs121918249
scholarrs121918249
googlers121918249
pharmgkbrs121918249
gwascentralrs121918249
openSNPrs121918249
23andMers121918249
23andMe allrs121918249
SNP Nexus

SNPshotrs121918249
SNPdbers121918249
MSV3drs121918249
GWAS Ctlgrs121918249
Max Magnitude0
OMIM609058
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918249(C;C)
Alt rs121918249(C;C)
Reference rs121918249(T;T)
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.49426867A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001955.2, RCV000203407.1,