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rs778702777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 8.8 Methylmalonic aciduria (predicted)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49457837
GeneMUT
is asnp
is mentioned by
dbSNPrs778702777
dbSNP (old)rs778702777
ClinGenrs778702777
ebirs778702777
HLIrs778702777
Exacrs778702777
Gnomadrs778702777
Varsomers778702777
Maprs778702777
PheGenIrs778702777
Biobankrs778702777
1000 genomesrs778702777
hgdprs778702777
ensemblrs778702777
gopubmedrs778702777
geneviewrs778702777
scholarrs778702777
googlers778702777
pharmgkbrs778702777
gwascentralrs778702777
openSNPrs778702777
23andMers778702777
23andMe allrs778702777
SNP Nexus

SNPshotrs778702777
SNPdbers778702777
MSV3drs778702777
GWAS Ctlgrs778702777
Max Magnitude8.8
ClinVar
Risk Rs778702777(T;T)
Alt Rs778702777(T;T)
Reference Rs778702777(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.49425550C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000203339.1,