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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.080 1.000 8 2008 2016
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: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 1.000 5 2005 2018
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 1.000 5 2008 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2011 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2005 2019
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2008 2016
dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2010 2015
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2005 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2007 2017
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2011 2015
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2012 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2014 2019
dbSNP: rs121918464
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2014 2018
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2011 2014
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2003 2005
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2014 2015
dbSNP: rs387907272
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2016 2018
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2013 2016
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2013 2014
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2003 2008
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2016 2019
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: 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: rs1190999960
rs1190999960
ZNRD2 ; FAM89B ; ZNRD2-AS1
0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2015 2017