rs121908839, TP63

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.
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
14 0.925 0.160 3 189867905 missense variant C/T snv 0.700 1.000 4 1999 2003
SPLIT-HAND/FOOT MALFORMATION 4
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
4 0.925 0.160 3 189867905 missense variant C/T snv 0.700 0