Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs56149945 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs187238 0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs1232898090 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs855791 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs1799883 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 36
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs4950928 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 33
rs7799039 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 33
rs4673 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32
rs11591147 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 28