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: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 1998 2007
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 1998 2007
dbSNP: rs1801166
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2003 2009
dbSNP: rs777980327
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2010 2013
dbSNP: rs137854573
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2018 2018
dbSNP: rs137854574
rs137854574
APC
0.925 0.120 5 112828919 stop gained C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2018 2018
dbSNP: rs2229992
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47
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: rs34301344
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2006 2006
dbSNP: rs755100942
rs755100942
ARL11
0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2006 2006
dbSNP: rs3803185
rs3803185
ARL11
0.708 0.320 13 49630889 missense variant T/C;G snv 0.39
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2006 2006
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2016 2016
dbSNP: rs776225963
rs776225963
ATP4A
19 35555490 missense variant G/A;T snv 1.1E-04
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs2273535
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2007 2007
dbSNP: rs121908568
rs121908568
AXIN2
0.807 0.160 17 65536495 stop gained G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs780634396
rs780634396
BCL2
0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2010 2010
dbSNP: rs17878467
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2019 2019
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: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 0.929 42 2003 2019
dbSNP: rs121913338
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2017 2017
dbSNP: rs121913369
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2012 2012
dbSNP: rs397509039
rs397509039
BRCA1
1.000 0.200 17 43092379 missense variant G/A;C snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2009 2009
dbSNP: rs62625307
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2007 2007
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2016 2017