rs28934575, TP53

N. diseases: 25
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 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.810 1.000 35 1990 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.740 1.000 2 2006 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 30 1990 2017
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 19 1992 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
114 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
96 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
118 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
102 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
188 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
115 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
99 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
135 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
179 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
1 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
Anaplastic astrocytoma
CUI: C0334579
Disease: Anaplastic astrocytoma
2 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
Atypical Teratoid Rhabdoid Tumor
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
1 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
Li-Fraumeni-Like Syndrome
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
5 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0