rs1131691014, TP53

N. diseases: 214
Source: ALL
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.439 0.800 17 7676154 frameshift variant -/C ins 0.700 0
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 1999 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
Acute Megakaryocytic Leukemias
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
15 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
Adult Acute Megakaryoblastic Leukemia
4 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
Cervical Squamous Cell Carcinoma
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
44 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
Childhood Acute Megakaryoblastic Leukemia
4 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
9 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2001 2011
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.923 39 2002 2019
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.909 11 2002 2016
cervical cancer
CUI: C4048328
Disease: cervical cancer
268 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2002 2016
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
245 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2002 2016
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2002 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.833 42 2003 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.833 42 2003 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.966 29 2003 2018
Squamous cell carcinoma of esophagus
329 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2003 2017
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2003 2012
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2003 2012
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2003 2012