rs11540652, TP53

N. diseases: 42
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
157 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.800 1.000 13 1991 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.770 1.000 2 2012 2020
Lymphoma
CUI: C0024299
Disease: Lymphoma
10 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 0 2013 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 0 2012 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
141 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 4 2014 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 0 2018 2018
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 12 1992 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 7 2001 2017
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2004 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 1998 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
114 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
96 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
118 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
51 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
153 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
102 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
188 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
115 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
80 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
76 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
19 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016