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: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.710 1.000 2 2004 2016
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 18 1989 2017
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1994 1995
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 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: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 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: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 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: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 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: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.700 0