Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1012477 0.827 0.160 1 7798075 intron variant G/C snv 0.16 8
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1137100 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1380576 0.763 0.240 1 204519150 intron variant G/C snv 0.57 10
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs145889899 0.882 0.120 1 54010411 splice acceptor variant C/T snv 6.2E-04 2.4E-03 3
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs201765376
MTR
0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 12
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs2295080 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs2536 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 11
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4245739 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 21
rs4645978 0.827 0.120 1 15525539 intron variant C/A;T snv 8
rs486907 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32