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: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2285947
rs2285947
DNAH11
7 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs2299939
rs2299939
PTEN
5 0.827 0.080 10 87897393 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2494938
rs2494938
LRFN2
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.800 1.000 1 2012 2012
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
7 0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs281432
rs281432
ICAM1
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs2847281
rs2847281
PTPN2
3 1.000 0.040 18 12821594 intron variant A/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs28929495
rs28929495
EGFR
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3138035
rs3138035
CCL8
3 0.882 0.080 17 34318930 upstream gene variant C/T snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs344781
rs344781
PLAUR
7 0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs35063026
rs35063026
SPATA33
3 0.925 0.080 16 89669749 3 prime UTR variant C/T snv 4.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs35324266
rs35324266 		1 1.000 0.040 6 32625467 upstream gene variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs3660
rs3660
KRT81 ; KRT86
6 0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs3813867
rs3813867
CYP2E1 ; LOC107984284
13 0.732 0.240 10 133526101 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs405509
rs405509
APOE
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs4268748
rs4268748
DEF8
3 0.925 0.080 16 89960104 intron variant T/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4455710
rs4455710
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
1 1.000 0.040 6 32641081 intron variant C/T snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
5 0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs454421
rs454421
KLC3
1 1.000 0.040 19 45341392 intron variant C/G;T snv 0.44 0.010 1.000 1 2016 2016