Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs12979860 0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs4149056 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs4148323 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 22
rs887829 0.763 0.280 2 233759924 intron variant C/T snv 0.36 18
rs2306283 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs8175347 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs774010631 0.827 0.160 2 233719115 missense variant G/C snv 2.4E-05 2.1E-05 5
rs1672753 0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 4
rs11045819 0.851 0.120 12 21176879 missense variant C/A;T snv 0.11; 4.0E-06 4
rs1801019 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 4
rs33947415
HBB
0.882 0.120 11 5226684 missense variant C/G;T snv 9.4E-04 3
rs6719561 1.000 0.040 2 233775117 upstream gene variant C/T snv 0.26 3
rs368362776 0.882 0.120 2 233693633 missense variant C/G;T snv 4.0E-06 3
rs6717546 1.000 0.040 2 233773473 upstream gene variant A/G snv 0.59 3
rs758907500
AGA
0.925 0.120 4 177440274 missense variant C/G snv 1.6E-05 2
rs113683735 0.925 0.080 22 35386751 missense variant A/G snv 2
rs776087856 1.000 0.040 10 99804134 stop gained G/A snv 4.0E-06 1
rs1359908894 1.000 0.040 19 10154757 missense variant G/T snv 4.0E-06 1
rs757344228 1.000 0.040 5 33982263 frameshift variant -/CT delins 1.6E-05 1.4E-05 1
rs373327528 1.000 0.040 12 21172776 missense variant G/A snv 4.4E-05 6.3E-05 1
rs1046420357 1.000 0.040 12 20862840 missense variant G/C;T snv 1
rs368817817 1.000 0.040 12 20855154 missense variant G/A snv 4.1E-06 1