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: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 0.667 3 1993 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 0.500 2 1993 2019
dbSNP: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 < 0.001 1 1993 1993
dbSNP: rs587781991
rs587781991
TP53
0.724 0.240 17 7675208 missense variant C/A;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 1996 1996
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.900 20 1998 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.967 30 1999 2019
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.667 15 1999 2018
dbSNP: rs1174612410
rs1174612410
SLC12A9
0.882 0.080 7 100860016 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 1999 1999
dbSNP: rs774352237
rs774352237
TCHP
0.882 0.080 12 109908873 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 1999 1999
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.850 20 2000 2018
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.875 16 2000 2018
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.875 16 2000 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.826 23 2001 2019
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.818 22 2001 2015
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 1.000 14 2001 2014
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.900 10 2001 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.090 0.667 9 2001 2018
dbSNP: rs369576054
rs369576054
MAPK10 ; ARHGAP24
0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2001 2001
dbSNP: rs538874513
rs538874513
TP73
0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2001 2001
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.921 38 2003 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.962 26 2003 2019
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 1.000 10 2003 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.070 0.857 7 2003 2019
dbSNP: rs121965039
rs121965039
OAT
0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2003 2003
dbSNP: rs146755810
rs146755810
OAT
0.882 0.080 10 124412125 missense variant C/G;T snv 2.4E-05; 3.2E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2003 2003