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: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 8 2007 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1994 2015
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 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: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 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
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0