Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918258(A;A)
Make rs121918258(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position49457801
GeneMUT
is asnp
is mentioned by
dbSNPrs121918258
ebirs121918258
HLIrs121918258
Exacrs121918258
Varsomers121918258
Maprs121918258
PheGenIrs121918258
hapmaprs121918258
1000 genomesrs121918258
hgdprs121918258
ensemblrs121918258
gopubmedrs121918258
geneviewrs121918258
scholarrs121918258
googlers121918258
pharmgkbrs121918258
gwascentralrs121918258
openSNPrs121918258
23andMers121918258
23andMe allrs121918258
SNP Nexus

SNPshotrs121918258
SNPdbers121918258
MSV3drs121918258
GWAS Ctlgrs121918258
Max Magnitude0
OMIM609058
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918258(A;A)
Alt rs121918258(A;A)
Reference rs121918258(G;G)
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.49425514C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001965.2, RCV000203381.1,