Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555599637
GAA
1.000 0.120 17 80107630 frameshift variant -/C ins 1
rs121907941
GAA
0.925 0.120 17 80110974 missense variant TC/GT mnv 1
rs1555601773
GAA
1.000 0.120 17 80113309 missense variant CA/GG mnv 1
rs1057516503
GAA
1.000 0.120 17 80104867 frameshift variant CT/- del 1
rs1057516785
GAA
1.000 0.120 17 80108512 frameshift variant T/- del 1
rs1057517286
GAA
1.000 0.120 17 80108606 frameshift variant T/- del 1
rs1428358278
GAA
1.000 0.120 17 80118712 frameshift variant G/- del 7.0E-06 1
rs1555598544
GAA
1.000 0.120 17 80104641 frameshift variant G/- del 1
rs1555598796
GAA
1.000 0.120 17 80104928 frameshift variant G/- del 1
rs1555598824
GAA
1.000 0.120 17 80104962 frameshift variant T/- del 1
rs1555598869
GAA
1.000 0.120 17 80105023 frameshift variant T/- del 1
rs1555599594
GAA
1.000 0.120 17 80107580 frameshift variant T/- del 1
rs386834235
GAA
1.000 0.120 17 80105111 frameshift variant T/- del 1.8E-04 1
rs767882689
GAA
1.000 0.120 17 80105111 frameshift variant TG/- del 1
rs770276275
GAA
1.000 0.120 17 80110029 frameshift variant GAGA/- del 7.0E-06 1
rs781088002
GAA
1.000 0.120 17 80112650 frameshift variant C/- del 2.9E-05 4.2E-05 1
rs786204661
GAA
1.000 0.120 17 80104951 frameshift variant T/- del 7.0E-06 1
rs886043343
GAA
1.000 0.120 17 80118210 frameshift variant CA/- delins 2
rs1057516189
GAA
1.000 0.120 17 80118706 frameshift variant -/CAGAAGGTGACTG delins 1
rs1057516546
GAA
1.000 0.120 17 80108601 frameshift variant C/-;CC delins 1
rs1057516581
GAA
1.000 0.120 17 80113361 frameshift variant C/- delins 1
rs1057516704
GAA
1.000 0.120 17 80118204 frameshift variant CA/- delins 1
rs1057516826
GAA
1.000 0.120 17 80112644 frameshift variant -/ATACG delins 1
rs1057516924
GAA
1.000 0.120 17 80117059 frameshift variant G/AT delins 1
rs1057517165
GAA
1.000 0.120 17 80104816 frameshift variant CCACACAGTGC/- delins 1