rs761885185, 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.
Ectrodactyly
CUI: C0265554
Disease: Ectrodactyly
2 0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06 0.020 1.000 2 2004 2011
Split hand foot deformity 1
CUI: C2931019
Disease: Split hand foot deformity 1
8 0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06 0.020 1.000 2 2004 2011
Split-Hand/Foot Malformation
CUI: C2699510
Disease: Split-Hand/Foot Malformation
6 0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06 0.020 1.000 2 2004 2011