Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869025337 0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs1565930588 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs121909518 0.882 0.120 7 128858475 stop gained G/A snv 3
rs1563083759 0.925 0.120 7 128957260 frameshift variant G/- del 6
rs202247792 0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs121908457 0.882 0.120 5 137870815 missense variant C/T snv 13
rs121908458 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 4
rs549794342
NEB ; RIF1
0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 4
rs746438011 0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 4
rs267607644 1.000 0.120 1 156115022 missense variant T/C snv 1
rs1553264624 1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del 1
rs58034145 0.827 0.160 1 156134830 missense variant A/C snv 10
rs199474724 0.851 0.120 1 156134839 missense variant G/A snv 4
rs57207746 0.925 0.120 1 156134860 missense variant G/A snv 2
rs59332535 0.827 0.160 1 156134911 missense variant G/A snv 5
rs1553265369 1.000 0.120 1 156134954 inframe deletion GAG/- delins 1
rs1553265433 1.000 0.120 1 156135208 missense variant G/C snv 1
rs1553265436 1.000 0.120 1 156135214 inframe deletion GAACAG/- delins 1
rs60458016 0.827 0.120 1 156136036 stop gained G/A;T snv 5
rs267607634 0.925 0.120 1 156136045 missense variant G/A;C snv 2
rs61672878 0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs1553265761 1.000 0.120 1 156136111 inframe deletion GAG/- delins 1
rs267607576 0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05 2
rs58932704 0.776 0.200 1 156136413 missense variant C/T snv 8
rs780302064 1.000 0.120 1 156137212 missense variant C/G;T snv 9.5E-06 1