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: rs587782144
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.810 1.000 1 1990 2017
dbSNP: rs587782144
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2010 2010
dbSNP: rs587782144
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs587782144
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs587782144
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014