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.
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
Adult Ependymoma
CUI: C0278874
Disease: Adult 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 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
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
Bone Sarcoma
CUI: C1704327
Disease: Bone Sarcoma
4 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2009 2009
Tumors of Adrenal Cortex
CUI: C0001618
Disease: Tumors of Adrenal Cortex
5 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.050 1.000 5 2005 2018
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
7 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2007 2007
Li-Fraumeni-Like Syndrome
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
8 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.050 1.000 5 2011 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
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
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
Choroid Plexus Carcinoma
CUI: C0431109
Disease: Choroid Plexus Carcinoma
11 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.040 1.000 4 2011 2015
Aplasia Cutis Congenita
CUI: C0282160
Disease: Aplasia Cutis Congenita
14 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2001 2016
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
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
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
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
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
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 12 2000 2016
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2001 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2003 2016
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
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
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
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