From: Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
Number of variants | SNPs | Indels |
---|---|---|
Called in entire larger sample (n =669) | 817,028 | 75,781 |
  → Found in all 10 TMAU subjects, with at least one subject homozygous for the minor allele | 94,535 | 5,251 |
   → Pathogenic by SIFT or PolyPhen-2 | 1,867 | 163 |
    → Pathogenic in oxidoreductase pathways | 57 | 4 |
     → Pathogenic in oxidoreductase pathways and with MAF < 0.05 | 4 | 1 |
    → Pathogenic in genes with no known choline metabolism function and shared by 2 subjects | 762 | 63 |
     → Pathogenic rare variant homozygous in two subjects within genes with no known choline metabolism function | 9 | 1 |