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 24
rs174548 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 9
rs17145750 0.925 0.120 7 73612048 intron variant C/A;T snv 7
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 7
rs4246215 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 6
rs11556924 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 3
rs13300663 9 4814948 intron variant G/A;C snv 3
rs6141 0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56 3
rs11082304 18 23141009 intron variant G/C;T snv 2
rs1668871 1 205268009 intron variant T/C;G snv 2
rs1801689 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 2
rs8176747
ABO
9 133255928 missense variant C/A;G snv 4.1E-06; 0.12 2
rs1034566 22 19996754 intron variant C/G;T snv 1
rs11071720 15 63049797 intron variant T/C;G snv 1
rs11628318 14 102573750 regulatory region variant T/A;C snv 1
rs11757577 6 135070327 intron variant G/A;T snv 1
rs13042885 20 1944061 upstream gene variant C/A;T snv 1
rs17568628 5 76751114 intergenic variant T/C;G snv 1
rs1977081 1.000 22 43934248 intron variant T/C;G snv 1
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 1
rs3792366 3 123121029 intron variant G/A;T snv 1
rs457287 9 4834394 intron variant A/G;T snv 1
rs6995402 8 143931393 intron variant T/C snv 1
rs700585 5 88856300 intron variant C/A;T snv 1
rs3819299 1.000 6 31354590 non coding transcript exon variant T/G snv 7.7E-02 2.3E-02 5