rs1060499555, IRF6

N. diseases: 3
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.
Cleft palate and bilateral cleft lip
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
10 0.925 0.200 1 209801301 missense variant A/G snv 0.700 0
Lower lip pit
CUI: C1861544
Disease: Lower lip pit
1 0.925 0.200 1 209801301 missense variant A/G snv 0.700 0
VAN DER WOUDE SYNDROME 1
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
28 0.925 0.200 1 209801301 missense variant A/G snv 0.700 0