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.
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
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2012 2012
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
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
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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.020 1.000 2 2011 2013
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
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
Glioma
CUI: C0017638
Disease: Glioma
353 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.070 1.000 7 2010 2019
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.080 0.875 8 2010 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.100 0.909 11 2011 2018
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
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.740 0.833 6 2007 2018