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

rs398124292(A;A)

From SNPedia

methylmalonic aciduria, cblC type
Is agenotype
ofrs398124292
GeneMMACHC
Chromosome1
Position45,507,545
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 2 carrier of a methylmalonic aciduria allele
(A;A) 8 methylmalonic aciduria, cblC type

This genotype represents two defective MMACHC gene alleles, leading to an inborn error of metabolism known as methylmalonic aciduria, cblC type.