Source: ALL

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: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.810 1.000 52 1990 2017
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 30 1990 2017
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 19 1992 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.740 1.000 6 2006 2018
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0345906
Disease: Sarcoma of liver
Sarcoma of liver 		0.010 1.000 1 1997 1997
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2018 2018
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2018 2018
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina 		0.010 1.000 1 2012 2012
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 2017 2017
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
Undifferentiated (Embryonal) Sarcoma 		0.010 1.000 1 1997 1997
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016