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: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 0.500 2 2007 2014
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 0.500 2 2007 2014
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 0.500 2 2007 2014
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
0.776 0.160 19 45421104 intron variant G/C snv 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2019 2019