Source: BEFREE

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: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.030 1.000 3 2008 2016
dbSNP: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 1.000 1 2012 2012
dbSNP: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		0.010 1.000 1 2001 2001
dbSNP: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		0.010 1.000 1 2012 2012
dbSNP: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.010 1.000 1 2015 2015
dbSNP: rs563378859
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010