TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Familial (FPAH) ×
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: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs1057519980
rs1057519980 		1.000 17 7675084 missense variant G/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs1199893366
rs1199893366 		0.925 0.080 17 7674968 missense variant A/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2016 2016
dbSNP: rs121912664
rs121912664 		0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2007 2007