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: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2016 2016
dbSNP: rs1131691021
rs1131691021
TP53
0.716 0.120 17 7675097 missense variant A/C;G snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2014 2016
dbSNP: rs121913444
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2007 2016
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2005 2010
dbSNP: rs2736098
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs4975616
rs4975616 		0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2010 2013
dbSNP: rs577715207
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2007 2010
dbSNP: rs754332870
rs754332870
TP53
0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2016 2018
dbSNP: rs759435862
rs759435862
KIDINS220
0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2011 2016
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs10503380
rs10503380 		1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
0.658 0.400 8 127395198 intron variant A/G snv 0.40
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs1057519696
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
0.677 0.400 5 168768351 intron variant G/A snv 0.25
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs112290073
rs112290073
TERT
0.882 0.080 5 1285917 intron variant G/A snv 7.8E-03
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs11466345
rs11466345
TGFB1
1.000 0.080 19 41337556 intron variant T/C snv 0.12
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs11991621
rs11991621 		1.000 0.080 8 9549072 intergenic variant C/T snv 0.18
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2008 2008