Source: ALL

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: rs28942094
rs28942094
IRF6
0.851 0.400 1 209801398 missense variant G/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		0.800 1.000 8 2002 2009
dbSNP: rs28942094
rs28942094
IRF6
0.851 0.400 1 209801398 missense variant G/A snv
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs28942094
rs28942094
IRF6
0.851 0.400 1 209801398 missense variant G/A snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.700 0
dbSNP: rs28942094
rs28942094
IRF6
0.851 0.400 1 209801398 missense variant G/A snv
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		0.700 0