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: rs1057520009
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2017 2017
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
0.677 0.400 5 168768351 intron variant G/A snv 0.25
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2013 2013
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015
dbSNP: rs112295309
rs112295309
SCRIB ; MIR937
1.000 0.080 8 143813896 missense variant T/C;G snv 6.1E-04
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs1126616
rs1126616
SPP1
0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2017 2017
dbSNP: rs11283943
rs11283943
MCC
0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 1.000 5 2008 2016
dbSNP: rs1131691021
rs1131691021
TP53
0.716 0.120 17 7675097 missense variant A/C;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 0.907 43 2003 2019
dbSNP: rs113561019
rs113561019
OGG1
1.000 0.080 3 9756791 missense variant G/A;T snv 3.9E-03; 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs113994087
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2015 2018
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 0.500 2 2002 2003
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2011 2014
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2010 2010
dbSNP: rs11646171
rs11646171
CDH8
16 61824185 intron variant G/A snv 0.13
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2019 2019
dbSNP: rs11651270
rs11651270
NLRP1
0.882 0.240 17 5521757 missense variant T/C snv 0.45 0.47
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs11669203
rs11669203
MAP2K7 ; TGFBR3L
0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs11671784
rs11671784
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs11777210
rs11777210
KBTBD11
1.000 0.080 8 1979843 intron variant C/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2018 2018
dbSNP: rs118101777
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015