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: rs12649507
rs12649507
4 0.851 0.080 4 55514317 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs2137947
rs2137947
3 0.882 0.040 3 4989276 downstream gene variant C/T snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs4630333
rs4630333
4 0.882 0.040 12 56443632 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 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: rs11082011
rs11082011
3 0.925 0.040 18 37565159 intron variant C/T snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs11155372
rs11155372
3 0.925 0.040 6 144698602 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11591827
rs11591827
3 0.925 0.040 10 81128126 intergenic variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs116609693
rs116609693
2 0.925 0.040 9 92811394 intron variant C/T snv 6.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs11728985
rs11728985
3 0.925 0.040 4 129115280 3 prime UTR variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11990063
rs11990063
3 0.925 0.040 8 10307685 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2018 2018
dbSNP: rs12555870
rs12555870
3 0.925 0.040 9 23347726 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs139459337
rs139459337
3 0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1411216
rs1411216
3 0.925 0.040 9 24520196 intergenic variant A/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs144733372
rs144733372
4 0.882 0.120 17 45486856 intron variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs17211233
rs17211233
4 0.882 0.040 5 81072944 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2221540
rs2221540
2 0.925 0.040 11 132846474 intron variant A/G snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs2979204
rs2979204
3 0.925 0.040 8 8441347 regulatory region variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs319924
rs319924
PHF3 ; EYS
2 0.925 0.040 6 63777354 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs352759
rs352759
3 0.925 0.040 8 15742205 intron variant T/A snv 0.700 1.000 1 2018 2018
dbSNP: rs35792458
rs35792458
3 0.925 0.040 8 10964921 intron variant G/C snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs4685959
rs4685959
2 0.925 0.040 3 5645577 regulatory region variant C/G;T snv 0.700 1.000 1 2018 2018