rs1553856553, TP63

N. diseases: 3
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.
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
6 0.925 0.200 3 189864391 missense variant C/T snv 0.700 0
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
14 0.925 0.200 3 189864391 missense variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.200 3 189864391 missense variant C/T snv 0.700 0