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.
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2013 2013
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2015 2015
Childhood Ependymoma
CUI: C1851584
Disease: 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
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2015 2015
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
9 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2019 2019
Ependymoma
CUI: C0014474
Disease: Ependymoma
8 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2020 2020
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2007 2007
Hereditary Malignant Neoplasm
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
18 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2008 2008
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
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