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Table 3 Putative Ancestry-Specific Variants Conferring Risk of PPROM

From: Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

 

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

  1. aData derived from the present report and Modi et al. [9]