rs797044484, TP63

N. diseases: 10
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.
Blepharitis
CUI: C0005741
Disease: Blepharitis
3 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
15 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Corneal Ulcer
CUI: C0010043
Disease: Corneal Ulcer
1 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
14 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Hypodontia
CUI: C0020608
Disease: Hypodontia
48 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Obstruction of nasolacrimal duct
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
2 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
30 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010