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: rs570436
rs570436
3 1.000 0.080 2 44915534 intergenic variant C/T snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs5860563
rs5860563
3 1.000 0.080 4 99126006 intron variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs61826952
rs61826952
1 1.000 0.080 1 174668799 intron variant A/G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs61902812
rs61902812
3 1.000 0.080 11 113503698 intergenic variant C/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs72716801
rs72716801
3 1.000 0.080 8 127636481 non coding transcript exon variant G/T snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs72900220
rs72900220
3 1.000 0.080 4 98671846 intergenic variant A/G snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs7597960
rs7597960
1 1.000 0.080 2 122667075 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7906104
rs7906104
3 1.000 0.080 10 108737343 intron variant C/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs9378160
rs9378160
3 1.000 0.080 6 31500215 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1131445
rs1131445
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1368439
rs1368439
2 1.000 0.080 5 159315006 3 prime UTR variant G/T snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs143894582
rs143894582
3 1.000 0.080 12 112469070 intron variant A/-;AA delins 0.010 1.000 1 2018 2018
dbSNP: rs149212747
rs149212747
2 1.000 0.080 12 111398968 intron variant C/-;CC;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2018 2018
dbSNP: rs3917328
rs3917328
2 1.000 0.080 2 102178081 3 prime UTR variant C/G;T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs4648143
rs4648143
2 1.000 0.080 4 102616617 3 prime UTR variant G/A;T snv 5.0E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs774062108
rs774062108
3 0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs778338788
rs778338788
2 1.000 0.080 15 81300440 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs878081
rs878081
3 0.882 0.200 21 44288394 synonymous variant C/T snv 0.21 0.19 0.010 1.000 1 2018 2018
dbSNP: rs940553638
rs940553638
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10198241
rs10198241
4 0.925 0.080 2 226115660 intergenic variant T/C snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs10211296
rs10211296
3 1.000 0.080 2 165633833 intron variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs10392
rs10392
6 0.882 0.160 20 38922292 3 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017