Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs861019
rs861019
IRF6
0.925 0.120 1 209802041 splice region variant A/G snv 0.44
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs861019
rs861019
IRF6
0.925 0.120 1 209802041 splice region variant A/G snv 0.44
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 1.000 1 2008 2008