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: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.800 16 1996 2018
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.800 7 1992 2010
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 14 1992 2017
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 14 1992 2017
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 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 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 1999 1999
dbSNP: rs28934574
rs28934574
TP53
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		0.010 < 0.001 1 2016 2016