rs113993965, 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.
ADULT SYNDROME
CUI: C1863204
Disease: ADULT SYNDROME
11 0.925 0.240 3 189808465 missense variant G/A;T snv 0.700 0
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
5 0.925 0.240 3 189808465 missense variant G/A;T snv 0.010 1.000 1 2013 2013