Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1372834938 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 12 | ||
rs10887800 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 11 | |||
rs28935197 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 10 | ||
rs1020608562 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 9 | ||
rs188942711 | 0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs756322971 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 9 | |||
rs1801239 | 0.827 | 0.160 | 10 | 16877053 | missense variant | T/C;G | snv | 8.9E-02; 8.0E-06 | 8 | ||
rs2229109 | 0.807 | 0.240 | 7 | 87550493 | missense variant | C/A;T | snv | 2.7E-02 | 8 | ||
rs2229569 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 8 | ||
rs2294021 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 8 | ||
rs12513649 | 0.851 | 0.160 | 5 | 173045049 | regulatory region variant | C/G;T | snv | 6 | |||
rs373909351 | 0.882 | 0.200 | 3 | 121772659 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 6 | ||
rs10951982 | 0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv | 5 | |||
rs753350907 | 0.827 | 0.080 | 10 | 100806499 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs121908529 | 0.851 | 0.160 | 2 | 240871433 | missense variant | G/A;C | snv | 5.6E-04 | 4 | ||
rs13447075 | 0.882 | 0.120 | 8 | 127998344 | non coding transcript exon variant | C/A | snv | 4 | |||
rs515299 | 0.925 | 0.080 | 1 | 196737547 | missense variant | G/A;C;T | snv | 4.8E-05; 1.7E-02 | 4 | ||
rs743811 | 0.882 | 0.160 | 22 | 35396981 | upstream gene variant | T/A;C | snv | 4 | |||
rs867394500 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 4 | |||
rs1057518923 | 0.925 | 0.200 | 16 | 2115395 | frameshift variant | -/C | delins | 3 | |||
rs1162592300 | 0.925 | 0.080 | 4 | 73412045 | missense variant | G/A | snv | 3 | |||
rs161740 | 0.882 | 0.200 | 5 | 98869326 | intron variant | C/A;T | snv | 3 | |||
rs17089362 | 0.882 | 0.160 | 18 | 74518403 | non coding transcript exon variant | G/A;T | snv | 3 | |||
rs2431260 | 0.882 | 0.160 | 6 | 151871196 | intron variant | G/C;T | snv | 3 | |||
rs2575390 | 0.925 | 0.080 | 16 | 23835433 | upstream gene variant | G/A;C | snv | 3 |