TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs761885185
rs761885185
0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2004 2011
dbSNP: rs34201045
rs34201045
1.000 0.040 3 189789729 5 prime UTR variant -/AG;AGA;AGAG;AGG;AGGG ins
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008