rs1057519991, TP53

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.710 GeneticVariation BEFREE Mutational analysis of the TP53 gene revealed a point mutation in exon 5 (A536G), which resulted in H179R in the gastric choriocarcinoma but not in the gastric adenocarcinoma. 19665071 2009
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
0.710 GeneticVariation BEFREE Combinations of the Y113H and H139R polymorphic EPHX1 variants have been assumed to alter the enzyme activity and thus the risk of squamous cell head and neck cancer (SCCHN). 12491039 2003
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant. 29902745 2018
Blast Phase
CUI: C0005699
Disease: Blast Phase
0.010 GeneticVariation BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007
CML progression
CUI: C1739405
Disease: CML progression
0.010 GeneticVariation BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007