Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.740 0.833 6 2007 2018
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.100 0.909 11 2011 2018
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.900 10 2014 2019
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.080 0.875 8 2010 2016
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0017638
Disease: Glioma
Glioma 		0.070 1.000 7 2010 2019
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.040 1.000 4 2013 2019
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.040 1.000 4 2013 2019
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.030 1.000 3 2013 2019
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.030 1.000 3 2013 2019
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.020 1.000 2 2011 2013
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.020 1.000 2 2019 2019
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		0.020 1.000 2 2013 2018
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2013 2013
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.010 < 0.001 1 2008 2008
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2017 2017
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		0.010 1.000 1 2012 2012
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma 		0.010 1.000 1 2018 2018
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri 		0.010 1.000 1 2012 2012