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: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2014 2014
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2009 2017
dbSNP: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2009 2017
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2017 2017
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs45535938
rs45535938
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
0.882 0.080 2 233693109 synonymous variant C/T snv 4.7E-03 2.0E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs6759892
rs6759892
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
0.851 0.160 2 233693023 missense variant T/G snv 0.39 0.39
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs12050604
rs12050604
UBR1
0.882 0.080 15 43065208 intron variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2011 2011
dbSNP: rs1423493595
rs1423493595
UBE2V1 ; TMEM189-UBE2V1
0.851 0.080 20 50082836 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs371769427
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2016 2018
dbSNP: rs9280508
rs9280508
TRIM27
0.882 0.080 6 28914582 intron variant GG/-;G;GGG;GGGG;GGGGG;GGGGGG delins
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs538874513
rs538874513
TP73
0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2001 2001
dbSNP: rs4488809
rs4488809
TP63
0.827 0.080 3 189638472 intron variant T/C snv 0.45
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.750 1.000 5 2011 2019
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2012 2015
dbSNP: rs7631358
rs7631358
TP63
0.851 0.080 3 189630622 upstream gene variant G/A snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2014 2017
dbSNP: rs6790167
rs6790167
TP63
0.827 0.080 3 189869485 intron variant A/G snv 0.53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1305755801
rs1305755801
TP53BP2
0.882 0.080 1 223802799 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2010 2011
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.850 20 2000 2018
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.875 16 2000 2018