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rs121918249(C;T)

From SNPedia
Carrier for a methylmalonic aciduria mutation
Is agenotype
ofrs121918249
GeneMUT
Chromosome6
Position49,459,154
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8.8 Methylmalonic aciduria (predicted)
(C;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 0 common in clinvar

Unaffected in absence of another pathogenic MUT gene mutation. See details via ClinVar link on main SNP/rs# page.