Source: CLINVAR

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: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.710 1.000 1 2008 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1997 2011
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G 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: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G 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: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G 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: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016