LIG1, DNA ligase 1, 3978

N. diseases: 30; N. variants: 8
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs156641
rs156641
0.882 0.080 19 48128151 intron variant C/T snv 0.29
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2008 2015
dbSNP: rs20579
rs20579
0.882 0.080 19 48165573 5 prime UTR variant G/A;C snv 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2008 2015
dbSNP: rs3730931
rs3730931
0.882 0.080 19 48143984 intron variant T/C snv 0.12 0.15
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2008 2015
dbSNP: rs439132
rs439132
0.882 0.080 19 48165657 intron variant T/C snv 5.6E-02 9.6E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2008 2015
dbSNP: rs20581
rs20581
0.882 0.080 19 48119170 synonymous variant A/G snv 0.58 0.64
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3730859
rs3730859
0.882 0.080 19 48161802 intron variant G/A snv 0.30
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012