Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs505151 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 3
rs2296160
CR1
0.925 0.120 1 207621975 missense variant A/G snv 0.82 0.81 1
rs5743810 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 1
rs12075 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 3
rs1801274 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 5
rs3750920 0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 1
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 3
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 3
rs2274567
CR1
0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 1
rs8176751
ABO
1.000 0.040 9 133255635 synonymous variant C/A;T snv 0.13 1
rs8176722
ABO
1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 3
rs8176743
ABO
1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 3
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 3
rs8176749
ABO
1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 4
rs867186 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 5
rs12788102 1.000 0.040 11 4769345 synonymous variant A/G snv 9.5E-02 9.6E-02 2
rs3211938 0.882 0.200 7 80671133 stop gained T/G snv 6.2E-03 2.6E-02 2
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 1
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 12
rs8176693
ABO
0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 5
rs2814778 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 3
rs77641731
ABO
1.000 0.040 9 133257521 missense variant T/C snv 3
rs7855466 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 3
rs11036238 1.000 0.040 11 5204405 upstream gene variant G/C snv 0.21 2
rs1211375 1.000 0.040 16 190281 intron variant A/C;T snv 2