rs1173679499, TP63

N. diseases: 5
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.
Ectodermal Dysplasia
CUI: C0013575
Disease: Ectodermal Dysplasia
16 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.020 1.000 2 2004 2008
ADULT SYNDROME
CUI: C1863204
Disease: ADULT SYNDROME
11 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
136 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
5 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
Rudiger syndrome 1
CUI: C0406704
Disease: Rudiger syndrome 1
6 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004