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rs398123277

From SNPedia

Orientationminus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs398123277(-;-)
Make rs398123277(-;CTT)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49440308
GeneMUT
is asnp
is mentioned by
dbSNPrs398123277
ebirs398123277
HLIrs398123277
Exacrs398123277
Varsomers398123277
Maprs398123277
PheGenIrs398123277
hapmaprs398123277
1000 genomesrs398123277
hgdprs398123277
ensemblrs398123277
gopubmedrs398123277
geneviewrs398123277
scholarrs398123277
googlers398123277
pharmgkbrs398123277
gwascentralrs398123277
openSNPrs398123277
23andMers398123277
23andMe allrs398123277
SNP Nexus

SNPshotrs398123277
SNPdbers398123277
MSV3drs398123277
GWAS Ctlgrs398123277
Max Magnitude0
ClinVar
Risk rs398123277(;)
Alt rs398123277(;)
Reference rs398123277(CTT;CTT)
Significance Pathogenic
Disease not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49408021_49408023delAAG
CLNSRC
CLNACC RCV000078442.4, RCV000210829.1,