Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs578015216
rs578015216
DDR2
1 1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05 0.700 1.000 1 2011 2011
dbSNP: rs1060501327
rs1060501327
MUTYH
4 0.851 0.080 1 45332251 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1367644026
rs1367644026
KRT5
5 0.925 0.080 12 52520259 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs6489769
rs6489769
RAD52
4 0.851 0.120 12 963799 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2012 2012
dbSNP: rs121913428
rs121913428
EGFR
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.700 1.000 2 2012 2013
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.700 1.000 2 2012 2013
dbSNP: rs397517097
rs397517097
EGFR
4 0.851 0.080 7 55174777 missense variant T/C snv 0.700 1.000 2 2012 2013
dbSNP: rs1057519791
rs1057519791
FGFR2
1 1.000 0.080 10 121518810 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs121918499
rs121918499
FGFR2
2 0.925 0.160 10 121520048 missense variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10118570
rs10118570 		2 0.925 0.120 9 125714185 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs6488507
rs6488507
LRP6 ; BCL2L14
2 0.925 0.080 12 12203966 intron variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs10849605
rs10849605
RAD52
4 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs754400800
rs754400800
NRG1
1 1.000 0.080 8 31640726 missense variant T/C snv 1.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.700 1.000 3 2012 2016
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.710 1.000 2 2015 2016
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 2 2015 2016
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016