Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs855791 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs79105258 12 111280427 intron variant C/A;T snv 24
rs651007 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 22
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv 18
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs198851 6 26104404 downstream gene variant T/A;C;G snv 15
rs4820268 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 14
rs112505971 10 27068541 intron variant A/C;G snv 13
rs1532085 0.882 0.080 15 58391167 intron variant A/G;T snv 13
rs3123543 1 212617344 intron variant T/A;C snv 13
rs3840870 17 50184820 3 prime UTR variant -/CTTG delins 13
rs529565
ABO
0.851 0.120 9 133274084 intron variant C/T snv 13
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 12
rs140522 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 11
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 11
rs514659
ABO
0.882 0.120 9 133266790 intron variant C/A;T snv 10
rs612169
ABO
9 133268030 intron variant G/A snv 10
rs649129 1.000 0.080 9 133278860 upstream gene variant T/C;G snv 10
rs630014
ABO
9 133274306 intron variant G/A;C snv 9
rs9472135 0.925 0.120 6 43842065 intron variant T/A;C;G snv 9
rs545971
ABO
9 133267960 intron variant T/A;C snv 8
rs674302
ABO
9 133271249 intron variant A/T snv 8
rs11066188 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 7