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: 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: rs1982809
rs1982809
3 0.882 0.200 3 112463893 downstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
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: rs2705511
rs2705511
1 1.000 0.120 3 112460632 downstream gene variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs4240807
rs4240807
4 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs57214277
rs57214277
2 0.925 0.120 4 184333619 downstream gene variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs77551289
rs77551289
2 0.925 0.120 18 63121512 downstream gene variant A/G snv 6.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs888096
rs888096
2 0.925 0.120 2 37376658 downstream gene variant G/A snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs9392504
rs9392504
7 0.827 0.120 6 412802 downstream gene variant G/A snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs8024033
rs8024033
2 0.925 0.120 15 40111456 upstream gene variant C/G snv 0.50 0.800 1.000 3 2013 2017
dbSNP: rs1036935
rs1036935
2 0.925 0.120 18 50317164 upstream gene variant A/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs140522
rs140522
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs391855
rs391855
2 0.925 0.120 16 85895015 upstream gene variant A/T snv 0.52 0.700 1.000 2 2016 2017
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: rs3755397
rs3755397
4 0.925 0.120 2 241355498 upstream gene variant A/G snv 6.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs391023
rs391023
2 0.925 0.120 16 85894208 upstream gene variant C/T snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs6858698
rs6858698
2 0.925 0.120 4 113762688 upstream gene variant G/C snv 0.20 0.800 1.000 1 2014 2014
dbSNP: rs7254272
rs7254272
2 0.925 0.120 19 4069121 upstream gene variant G/A snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs8113877
rs8113877
1 1.000 0.120 20 46006406 upstream gene variant G/T snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs9273363
rs9273363
4 0.851 0.280 6 32658495 upstream gene variant C/A snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.080 1.000 8 2013 2019
dbSNP: rs11083846
rs11083846
3 0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16 0.830 1.000 3 2008 2010
dbSNP: rs31490
rs31490
8 0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs777846438
rs777846438
2 0.925 0.240 6 43780801 splice region variant C/T snv 4.4E-05 6.3E-05 0.010 1.000 1 2014 2014