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rs758577372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758577372(C;T)
Make rs758577372(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position49453691
GeneMUT
is asnp
is mentioned by
dbSNPrs758577372
dbSNP (old)rs758577372
ClinGenrs758577372
ebirs758577372
HLIrs758577372
Exacrs758577372
Gnomadrs758577372
Varsomers758577372
Maprs758577372
PheGenIrs758577372
Biobankrs758577372
1000 genomesrs758577372
hgdprs758577372
ensemblrs758577372
gopubmedrs758577372
geneviewrs758577372
scholarrs758577372
googlers758577372
pharmgkbrs758577372
gwascentralrs758577372
openSNPrs758577372
23andMers758577372
23andMe allrs758577372
SNP Nexus

SNPshotrs758577372
SNPdbers758577372
MSV3drs758577372
GWAS Ctlgrs758577372
Max Magnitude0
ClinVar
Risk rs758577372(T;T)
Alt rs758577372(T;T)
Reference Rs758577372(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 0
HGVS NC_000006.11:g.49421404C>T
CLNSRC
CLNACC RCV000236170.1,