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: rs11190164
rs11190164 		10 0.776 0.080 10 99591947 intergenic variant A/G snv 0.19 0.700 1.000 3 2015 2019
dbSNP: rs2193352
rs2193352 		9 0.790 0.080 10 99586852 intergenic variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs1035209
rs1035209 		9 0.790 0.080 10 99585609 intergenic variant C/T snv 0.15 0.700 1.000 2 2014 2019
dbSNP: rs6584283
rs6584283
LINC01475
12 0.776 0.080 10 99530544 intron variant T/C snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs12412391
rs12412391
LINC01475
9 0.790 0.080 10 99529178 intron variant A/G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs283415
rs283415
ADH1B ; ADH1C
2 0.925 0.080 4 99349450 intron variant C/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs4147542
rs4147542
ADH1B ; ADH1C
3 0.882 0.160 4 99347396 intron variant T/C snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs3811802
rs3811802
ADH1B
2 0.925 0.080 4 99323064 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4147536
rs4147536
ADH1B
2 0.925 0.080 4 99317955 non coding transcript exon variant A/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs34405347
rs34405347 		10 0.776 0.080 9 98917470 regulatory region variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1407508
rs1407508 		9 0.790 0.080 9 98882256 regulatory region variant T/C snv 4.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs145364999
rs145364999
CHD1
10 0.776 0.080 5 98870378 intron variant T/A snv 1.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs2732875
rs2732875
SHROOM2
9 0.790 0.080 X 9795858 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs5934683
rs5934683
GPR143
9 0.790 0.080 X 9783434 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs11692435
rs11692435
ACTR1B
10 0.790 0.080 2 97658891 missense variant G/A snv 7.0E-02 6.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.030 0.333 3 2003 2012
dbSNP: rs756363791
rs756363791
OGG1
4 0.882 0.080 3 9756823 missense variant G/A snv 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs67376798
rs67376798
DPYD
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.010 1.000 1 2017 2017
dbSNP: rs202110856
rs202110856
ERAP1
9 0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs1724120
rs1724120
DUSP2 ; ASTL
2 0.925 0.080 2 96143592 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799853
rs1799853
CYP2C9
11 0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs9409565
rs9409565
LOC107987100
9 0.790 0.080 9 94488752 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs119490107
rs119490107
RAD54B ; FSBP
2 0.925 0.080 8 94399540 missense variant C/A snv 2.8E-05 0.700 0
dbSNP: rs13149359
rs13149359 		10 0.776 0.080 4 94017467 intergenic variant C/A snv 0.29 0.700 1.000 1 2019 2019