Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs57221529 1.000 0.120 5 586509 regulatory region variant A/G snv 0.16 1
rs5952223 1.000 0.120 X 116255308 intergenic variant C/T snv 0.29 1
rs7879546 1.000 0.120 X 116217020 intergenic variant T/C snv 1
rs871799 1.000 0.120 1 203200743 intergenic variant C/G snv 0.18 1
rs9300298 1.000 0.120 12 1757038 intron variant T/A snv 0.55 1
rs747607158
CFI
1.000 0.120 4 109740999 missense variant T/C snv 1
rs1057516216 1.000 0.120 7 117592659 splice donor variant T/C snv 7.0E-06 1
rs1057516232 1.000 0.120 7 117504255 stop gained G/A snv 1
rs1057516236 1.000 0.120 7 117592596 frameshift variant G/- del 1
rs1057516387 1.000 0.120 7 117540116 frameshift variant -/TC delins 1
rs1057516415 1.000 0.120 7 117610522 frameshift variant T/- delins 1
rs1057516609 1.000 0.120 7 117627586 stop gained C/A snv 1
rs1057516619 1.000 0.120 7 117536669 stop gained A/T snv 1
rs1057516646 1.000 0.120 7 117536546 splice acceptor variant A/G snv 1
rs1057516970 1.000 0.120 7 117627548 frameshift variant G/- del 1
rs1057517032 1.000 0.120 7 117603725 frameshift variant A/- delins 1
rs1057517068 1.000 0.120 7 117594992 frameshift variant -/T delins 7.0E-06 1
rs1057517276 1.000 0.120 7 117592649 frameshift variant -/A delins 1
rs1057517342 1.000 0.120 7 117535406 splice donor variant -/TACA delins 1
rs1057517404 1.000 0.120 7 117642569 frameshift variant -/AA delins 1
rs1060503164 1.000 0.120 7 117603783 splice donor variant G/A snv 1
rs1177201180 1.000 0.120 7 117592160 missense variant A/T snv 1
rs1199914684 1.000 0.120 7 117536639 stop gained G/T snv 1
rs1204521684 1.000 0.120 7 117540180 missense variant T/A;C;G snv 4.0E-06 1
rs121908750 1.000 0.120 7 117509140 missense variant G/A snv 4.0E-06 1