Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3865188 0.790 0.320 16 82617112 intergenic variant A/G;T snv 10
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs822395 0.776 0.240 3 186849018 intron variant C/A;G snv 10
rs822396 0.732 0.400 3 186849088 intron variant G/A snv 0.81 16
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs4994 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs429358 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs3792267 0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23 4
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs7754840 0.807 0.200 6 20661019 intron variant G/A;C;T snv 9
rs4950928 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 33
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs3732378 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 48
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs2470890 0.742 0.320 15 74755085 synonymous variant T/C snv 0.57 12