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: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519983
rs1057519983
TP53
16 0.724 0.360 17 7673797 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2011 2011
dbSNP: rs11636802
rs11636802
LOC105370831
2 0.925 0.120 15 56483399 intergenic variant A/G snv 8.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1274963
rs1274963
CSRNP1
2 0.925 0.120 3 39149538 non coding transcript exon variant A/G snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs13015798
rs13015798
FAM126B
2 0.925 0.120 2 201044792 intron variant A/G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs13069553
rs13069553 		4 0.851 0.200 3 169790484 upstream gene variant A/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs142215530
rs142215530
LOC105370831
2 0.925 0.120 15 56485493 intergenic variant A/G snv 8.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1476569
rs1476569 		2 0.925 0.120 4 113777540 intergenic variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs16976734
rs16976734
RFX7
2 0.925 0.120 15 56090097 3 prime UTR variant A/G snv 0.12 0.800 1.000 1 2014 2014
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 2011 2011
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.800 1.000 1 2014 2014
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: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs210134
rs210134
BAK1 ; GGNBP1
3 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs2147420
rs2147420
FAS
1 1.000 0.120 10 88999856 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.010 < 0.001 1 2014 2014
dbSNP: rs2511713
rs2511713 		2 0.925 0.120 8 102565637 downstream gene variant A/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs2651823
rs2651823
TSPAN32 ; C11orf21
2 0.925 0.120 11 2300420 intron variant A/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs2720680
rs2720680
PVT1
4 0.851 0.160 8 128102971 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs2953196
rs2953196
GRAMD1B
2 0.925 0.120 11 123497625 intron variant A/G snv 0.81 0.700 1.000 1 2016 2016
dbSNP: rs34004493
rs34004493
SP140
2 0.925 0.120 2 230289297 intron variant A/G snv 0.19 0.700 1.000 1 2017 2017