Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2016 2018
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0206704
Disease: Carcinoma, Large Cell
Carcinoma, Large Cell 		0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0345963
Disease: Benign neoplasm of lung
Benign neoplasm of lung 		0.010 1.000 1 2006 2006
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.010 1.000 1 2018 2018