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: rs4246742
rs4246742
TERT
0.827 0.120 5 1267241 intron variant T/A snv 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs4246742
rs4246742
TERT
0.827 0.120 5 1267241 intron variant T/A snv 0.23
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs4246742
rs4246742
TERT
0.827 0.120 5 1267241 intron variant T/A snv 0.23
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs4246742
rs4246742
TERT
0.827 0.120 5 1267241 intron variant T/A snv 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs4246742
rs4246742
TERT
0.827 0.120 5 1267241 intron variant T/A snv 0.23
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2014 2014