rs28942094, IRF6

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
VAN DER WOUDE SYNDROME 1
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
28 0.851 0.400 1 209801398 missense variant G/A snv 0.800 1.000 8 2002 2009
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
8 0.851 0.400 1 209801398 missense variant G/A snv 0.700 0
Popliteal pterygium syndrome
CUI: C0265259
Disease: Popliteal pterygium syndrome
17 0.851 0.400 1 209801398 missense variant G/A snv 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.851 0.400 1 209801398 missense variant G/A snv 0.700 0