Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 33 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs11801299 | 0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 | 9 | ||
rs3021094 | 0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 | 8 | ||
rs1332018 | 0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 | 6 | |
rs1373481065 | 0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs201701502 | 0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 | 5 | |
rs1172398253 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs3917412 | 1.000 | 0.040 | 1 | 169731361 | intron variant | T/A;C;G | snv | 4 | |||
rs1196644309 | 1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv | 3 | |||
rs772092699 | 0.925 | 0.080 | 1 | 22912497 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs9679162 | 0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 | 4 | ||
rs1156560901 | 2 | 201880120 | missense variant | A/G | snv | 1.4E-05 | 2 | ||||
rs1223118092 | 2 | 46576601 | missense variant | A/G | snv | 1 | |||||
rs6737848 | 2 | 46701027 | intron variant | C/G | snv | 0.14 | 1 |