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: rs306890
rs306890
4 Y 56944005 intergenic variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs11539157
rs11539157
1 X 69161421 missense variant C/A;T snv 0.16; 5.5E-06 0.700 1.000 1 2018 2018
dbSNP: rs1190736
rs1190736
1 X 137031305 missense variant C/A snv 0.37 0.34 0.700 1.000 1 2017 2017
dbSNP: rs1316982
rs1316982
1 X 118753835 intron variant A/T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1379871
rs1379871
DMD
1 X 31836665 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3121672
rs3121672
1 X 118782407 intron variant T/C snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs5945324
rs5945324
1 X 153629096 intergenic variant G/C snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs6529684
rs6529684
1 X 53515142 intergenic variant G/A snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs4820408
rs4820408
1 22 40208941 intron variant T/A;G snv 0.700 1.000 3 2015 2018
dbSNP: rs139913
rs139913
1 22 40317857 intron variant T/A snv 0.69 0.700 1.000 2 2017 2018
dbSNP: rs713763
rs713763
1 22 48475207 non coding transcript exon variant G/A snv 0.38 0.700 1.000 2 2019 2019
dbSNP: rs10483182
rs10483182
2 22 34739115 intergenic variant G/A snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs12484438
rs12484438
1 22 40162060 intron variant T/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs12628051
rs12628051
1 22 40258272 intron variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs12628891
rs12628891
1 22 37921130 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs165722
rs165722
1 22 19961490 intron variant C/T snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs17759796
rs17759796
1 22 21835874 intron variant C/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs28489620
rs28489620
1 22 41408712 regulatory region variant G/A;C snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs406388
rs406388
BID
1 22 17744231 intron variant C/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs41279831
rs41279831
1 22 46255726 3 prime UTR variant T/C snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs4820410
rs4820410
1 22 40294381 intron variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs56330886
rs56330886
1 22 50054998 intron variant T/G snv 5.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs5750508
rs5750508
1 22 37907148 non coding transcript exon variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs5758651
rs5758651
1 22 42213142 missense variant T/C snv 0.18 0.18 0.700 1.000 1 2018 2018
dbSNP: rs5771118
rs5771118
1 22 50275860 intron variant T/C snv 0.74 0.79 0.700 1.000 1 2019 2019