rs121434230, IRF6

N. diseases: 2
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 0.925 0.200 1 209788638 missense variant G/A snv 0.800 1.000 8 2002 2009
Van der Woude syndrome
CUI: C0175697
Disease: Van der Woude syndrome
9 0.925 0.200 1 209788638 missense variant G/A snv 0.010 1.000 1 2003 2003