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: rs751144688
rs751144688
CD44
4 1.000 0.080 11 35206195 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2564978
rs2564978
CD55
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2010 2010
dbSNP: rs753152604
rs753152604
CDK4
7 0.827 0.040 12 57751680 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.020 1.000 2 2007 2016
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs782212015
rs782212015
CEACAM5
1 19 41721077 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2009 2009
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.040 1.000 4 2013 2016
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 1.000 1 2010 2010
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2013 2013
dbSNP: rs3764221
rs3764221
CYP19A1
1 15 51296650 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs2073664
rs2073664
DKK4
5 0.851 0.120 8 42374268 synonymous variant G/A snv 0.14 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2279574
rs2279574
DUSP6
8 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 0.941 34 2005 2020
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 0.941 34 2005 2020
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 0.941 34 2005 2020
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.050 1.000 5 2006 2019
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.020 1.000 2 2013 2014
dbSNP: rs146795390
rs146795390
EGFR
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs150423237
rs150423237
EGFR
1 7 55173087 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2017 2017