Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1568710381 1.000 0.160 19 1221976 missense variant G/A snv 1
rs587778695 1.000 0.160 19 1223152 missense variant C/A;T snv 4.1E-06; 8.2E-05 1
rs730881984 1.000 0.160 19 1221977 missense variant G/A;T snv 5.6E-06 1
rs786201090 1.000 0.160 19 1221996 missense variant C/T snv 1
rs786202431 1.000 0.160 19 1223007 missense variant C/G;T snv 1
rs886037926 1.000 0.160 19 1220449 missense variant A/G snv 1
rs1131690920 1.000 0.160 19 1222007 splice donor variant G/A snv 2
rs1131690921 1.000 0.160 19 1221341 splice donor variant G/T snv 2
rs1131690950 1.000 0.160 19 1207204 splice donor variant G/A;C snv 2
rs886039554 1.000 0.160 19 1220506 splice donor variant G/T snv 2
rs1555735080 1.000 0.160 19 1207203 splice donor variant GTAAGTA/- delins 1
rs1555737480 1.000 0.160 19 1218502 splice donor variant T/C snv 1
rs1568690546 1.000 0.160 19 1207205 splice donor variant TAA/- del 1
rs1555738475 0.776 0.400 19 1220707 frameshift variant G/- delins 12
rs1131690917 1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins 2
rs1131690949 1.000 0.160 19 1221320 frameshift variant -/G delins 2
rs121913320 1.000 0.160 19 1221265 frameshift variant TTTG/- delins 2
rs121913321 1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins 2
rs397518440 1.000 0.160 19 1219367 frameshift variant C/- del 2
rs397518443 0.925 0.200 19 1222998 frameshift variant AA/-;A delins 2
rs587782424 1.000 0.160 19 1219346 frameshift variant TG/- delins 2
rs1060499960 1.000 0.160 19 1223051 frameshift variant ACCGGTGG/- delins 1
rs1060499961 1.000 0.160 19 1207041 frameshift variant C/- delins 1
rs1555735001 1.000 0.160 19 1207091 frameshift variant -/AC delins 1
rs1555735008 1.000 0.160 19 1207093 frameshift variant C/- del 1