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: rs17432750
rs17432750
2 5 56735995 regulatory region variant C/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs17837474
rs17837474
1 7 142669182 upstream gene variant A/G snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs17837475
rs17837475
1 7 142681397 upstream gene variant C/T snv 6.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs2057768
rs2057768
4 0.925 0.120 16 27310774 upstream gene variant C/A;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2063993
rs2063993
1 7 142847457 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2078176
rs2078176
1 7 142649362 downstream gene variant A/G snv 0.48 0.700 1.000 1 2017 2017
dbSNP: rs2145048
rs2145048
4 0.925 0.080 6 36589803 upstream gene variant C/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2197159
rs2197159
1 17 49400273 intron variant C/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs222826
rs222826
16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2367486
rs2367486
2 1.000 0.040 7 142784320 upstream gene variant A/G snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs2410373
rs2410373
6 0.851 0.120 8 16066997 intergenic variant A/C snv 0.34 0.010 1.000 1 2007 2007
dbSNP: rs247617
rs247617
20 0.827 0.160 16 56956804 regulatory region variant C/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs2555639
rs2555639
7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs2584663
rs2584663
1 17 49390785 intron variant G/A snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs2660753
rs2660753
9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.010 < 0.001 1 2011 2011
dbSNP: rs2834439
rs2834439
1 21 34300618 intron variant A/G snv 0.73 0.700 1.000 1 2017 2017
dbSNP: rs2834440
rs2834440
1 21 34318199 intron variant G/A snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs2834450
rs2834450
1 21 34329783 intron variant G/A snv 0.72 0.700 1.000 1 2017 2017
dbSNP: rs2834461
rs2834461
1 21 34344072 intron variant A/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs2853668
rs2853668
5 0.882 0.080 5 1299910 upstream gene variant G/T snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2866611
rs2866611
16 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs28714259
rs28714259
5 0.882 0.120 15 23463380 intergenic variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs2898857
rs2898857
1 17 49278661 intron variant G/T snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs2943641
rs2943641
18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs2980853
rs2980853
16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016