Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs524952 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 6
rs634990 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 6
rs6841698 0.882 0.080 4 38760093 upstream gene variant G/A snv 0.36 4
rs11260867 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 1
rs7543472 1.000 0.040 1 16113897 regulatory region variant C/A;G;T snv 1
rs1303044966 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 4
rs863225045 0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs8027411 0.882 0.040 15 79168687 intron variant G/T snv 0.52 4
rs17175798 0.925 0.040 15 79171618 intron variant C/A;T snv 3
rs1215603718 0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 3
rs765019311
AVP
0.925 0.040 20 3082716 missense variant C/A;G;T snv 2
rs867198716
AVP
1.000 0.040 20 3082775 missense variant C/T snv 7.0E-06 1
rs113624356 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs377423839 0.925 0.080 3 133400418 missense variant G/A snv 5.2E-05 1.4E-05 2
rs104893685 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs930526408 0.925 0.040 3 133472412 missense variant G/A;T snv 2
rs1063147
BLM
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 6
rs1135401778 0.752 0.400 17 67854315 frameshift variant T/- del 20
rs118203966 0.882 0.040 20 33851064 missense variant G/A snv 3
rs118203965 0.925 0.040 20 33850969 missense variant A/T snv 2
rs751634469 1.000 0.040 20 33811532 missense variant C/A;T snv 4.2E-06; 8.5E-06 1
rs765919785 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 4
rs1554781700 0.851 0.240 9 134701287 missense variant G/T snv 12
rs1250875000 0.925 0.040 21 6560927 missense variant C/A;T snv 2
rs121912973 0.882 0.040 21 43172105 missense variant G/A snv 3