rs55819519, TP53

N. diseases: 40
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.
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
32 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.020 1.000 2 2019 2019
Adult Anaplastic Astrocytoma
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
8 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2018 2018
Grade III Childhood Astrocytoma
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
8 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2018 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2018 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2018 2018
Childhood Oligoastrocytoma
CUI: C3899649
Disease: Childhood Oligoastrocytoma
3 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2017 2017
Leukemia secondary
CUI: C0856053
Disease: Leukemia secondary
4 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2017 2017
Mixed Oligodendroglioma-Astrocytoma
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
3 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2017 2017
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2016 2016
Childhood Pleomorphic Xanthoastrocytoma
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
7 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2016 2016
Pleomorphic Xanthoastrocytoma
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
8 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2016 2016
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1 2015 2015
Recurrent tumor
CUI: C0521158
Disease: Recurrent tumor
33 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2015 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.100 0.900 10 2014 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2014 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2014 2014
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
21 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.040 1.000 4 2013 2019
Well Differentiated Oligodendroglioma
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
22 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.040 1.000 4 2013 2019
Adult Oligodendroglioma
CUI: C0279070
Disease: Adult Oligodendroglioma
19 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.030 1.000 3 2013 2019
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
19 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.030 1.000 3 2013 2019
Anaplastic astrocytoma
CUI: C0334579
Disease: Anaplastic astrocytoma
12 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.020 1.000 2 2013 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2013 2013
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2013 2013
Diffuse Astrocytoma
CUI: C0280785
Disease: Diffuse Astrocytoma
8 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2013 2013