DEFB1 rs5743490 | MBL2 rs74754826 | METTL7B rs115687886 | |
---|---|---|---|
Present in cases only in WES? | Yesa | Yesa | Yes |
Validated by Sanger sequencing? | Yesa | Yesa | Yes |
Rare? | Yes | Yes | Yes |
African ancestry? | Yes | Yes | Yes |
Under selective pressure? | Yes | Yes | ? |
Heterozygous impact? | Plausible | Plausible | ? |
Expressed in fetal membranes? | Yes | Yesa | Yes |
Plausible pathophysiology? | Yes | Yes | ? |
Replication? | Yes | Yes | No |