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: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 3 1998 2018
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1998 2008
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
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: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2004 2004
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2004 2004