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: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2006 2006
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1982809
rs1982809
BTLA ; LOC112268446
3 0.882 0.200 3 112463893 downstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs2243289
rs2243289
IL4 ; LOC105379176
3 0.882 0.240 5 132682440 intron variant A/G snv 0.26 0.23 0.010 1.000 1 2017 2017
dbSNP: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs2504106
rs2504106
DAAM2
2 0.925 0.120 6 39854343 intron variant A/G snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs3021097
rs3021097
IL10 ; IL19
10 0.752 0.440 1 206773289 5 prime UTR variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs6466135
rs6466135 		2 0.925 0.120 7 106861053 upstream gene variant A/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs6641352
rs6641352
MAGEA11
2 0.925 0.120 X 149711150 intron variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs7132434
rs7132434 		2 0.925 0.120 12 26319629 non coding transcript exon variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs71428439
rs71428439
GPC1 ; MIR149 ; LOC100130449
5 0.827 0.200 2 240456083 non coding transcript exon variant A/G snv 0.11 0.13 0.010 1.000 1 2014 2014
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2018 2018
dbSNP: rs147608663
rs147608663
RIOK2 ; LIX1-AS1
1 1.000 0.120 5 97171338 missense variant A/G snv 2.8E-05; 8.1E-06 4.9E-05 0.700 0
dbSNP: rs12617313
rs12617313
EPAS1
2 0.925 0.120 2 46332637 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1550117
rs1550117
DNMT3A
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs2243270
rs2243270
IL4
2 0.925 0.120 5 132678417 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs876658517
rs876658517
ATM ; C11orf65
1 1.000 0.120 11 108327735 missense variant A/G;T snv 0.700 0
dbSNP: rs7102764
rs7102764
GRM5
2 0.925 0.120 11 88778092 intron variant A/T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs1131690838
rs1131690838
FLCN
3 0.925 0.120 17 17228135 frameshift variant C/- del 0.010 1.000 1 2019 2019