Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 29
rs1374712964 1.000 0.080 1 45332028 missense variant T/C snv 2
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs36053993 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 24
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs486907 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 31
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 131
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 83
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 36
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 36
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 114
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs113561019 1.000 0.080 3 9756791 missense variant G/A;T snv 3.9E-03; 4.0E-06 2
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 62
rs1400826115 1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06 2