Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2287497 0.882 0.120 17 7689462 intron variant G/A snv 0.25 3
rs281865547 0.925 0.120 17 7689284 missense variant C/A snv 2
rs1213207387 1.000 0.120 17 7689255 stop gained C/G;T snv 4.0E-06 1
rs2287498 0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14 4
rs2287499 0.925 0.080 17 7688850 missense variant C/G;T snv 0.20 4
rs8064946 0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32 4
rs2078486 0.882 0.080 17 7679765 intron variant G/A;C snv 3
rs12602273 0.851 0.080 17 7679695 intron variant C/G snv 0.15 4
rs8078476 17 7677910 intron variant G/A snv 4.6E-02 2
rs8079544 1.000 0.040 17 7676734 intron variant C/T snv 7.4E-02 2
rs143458271 0.925 0.080 17 7676589 synonymous variant C/T snv 9.2E-05 8.4E-05 2
rs587782646 0.925 0.080 17 7676576 missense variant C/G snv 4.0E-06 2
rs1555527002 1.000 0.120 17 7676556 frameshift variant -/G delins 1
rs1555526997 1.000 0.120 17 7676550 frameshift variant A/- del 1
rs876658627 17 7676543 frameshift variant T/- delins 1
rs1131691018 17 7676537 frameshift variant A/- delins 1
rs1642785 0.807 0.200 17 7676483 5 prime UTR variant G/A;C;T snv 1.2E-05; 0.67; 2.8E-05 6
rs1131691020 17 7676405 splice acceptor variant T/C snv 1
rs397516438 1.000 0.120 17 7676398 splice acceptor variant GGAA/ACGTTCTT delins 2
rs1555526931 1.000 0.120 17 7676392 frameshift variant T/- delins 1
rs1011445550 0.925 0.080 17 7676391 missense variant G/C snv 2
rs201753350 1.000 0.120 17 7676387 missense variant C/A;T snv 2.5E-04; 4.0E-06 1
rs1131691003 0.752 0.360 17 7676381 splice donor variant C/A;G snv 12
rs1131691015 17 7676379 splice donor variant -/A delins 1
rs1555526916 17 7676378 splice donor variant ACCAGAACGTTGTTT/- delins 1