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: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 15 1991 2015
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 12 1992 2013
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.770 1.000 9 2012 2020
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2001 2017
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.710 1.000 5 2014 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 0.800 5 1993 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2010 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 3 2004 2016
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 3 1998 2016
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.020 1.000 2 2013 2017
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2012 2015
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.020 1.000 2 2013 2017
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 0.500 2 1993 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2012 2015
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 0.500 2 1993 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.720 1.000 2 2013 2017
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2015 2018
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.020 1.000 2 2015 2018
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.020 1.000 2 2015 2018
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 0.500 2 1993 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016