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: rs171140
rs171140
ERCC2
0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs171140
rs171140
ERCC2
0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2008 2008
dbSNP: rs171140
rs171140
ERCC2
0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs171140
rs171140
ERCC2
0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2018 2018
dbSNP: rs171140
rs171140
ERCC2
0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2008 2008
dbSNP: rs171140
rs171140
ERCC2
0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2008 2008