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: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1994 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 10 1994 2012
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 8 1995 2011
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 1998 1998
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2018 2018
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C 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: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0334342
Disease: Skin appendage adenoma
Skin appendage adenoma 		0.010 1.000 1 2014 2014
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 < 0.001 1 1999 1999
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016