rs121912664, TP53

N. diseases: 44
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.
Intestinal metaplasia
CUI: C0334037
Disease: Intestinal metaplasia
24 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Malignant Childhood Neoplasm
CUI: C0278704
Disease: Malignant Childhood Neoplasm
34 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 1 2013 2013
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2015 2015
Newly Diagnosed Childhood Ependymoma
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
3 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2020 2020
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
151 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Premenopausal breast cancer
CUI: C0741682
Disease: Premenopausal breast cancer
18 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2018 2018
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2001 2001
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2017 2017
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2012 2012
Tumor Initiation
CUI: C0598935
Disease: Tumor Initiation
8 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2019 2019
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.900 0.977 44 1990 2020
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.941 17 2005 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.933 15 2005 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.875 16 2001 2020
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 2014 2019
Adrenocortical Carcinoma, Pediatric
CUI: C1859973
Disease: Adrenocortical Carcinoma, Pediatric
2 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0