Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs142085340 | 1.000 | 0.080 | 19 | 38106538 | splice region variant | C/T | snv | 9.1E-05 | 3.0E-04 | 3 | |
rs138551969 | 1.000 | 0.040 | 6 | 43780749 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 4 | |
rs10223666 | 1.000 | 0.040 | 6 | 43837765 | intron variant | G/A;C | snv | 3 | |||
rs10994856 | 0.925 | 0.120 | 10 | 50885488 | intron variant | G/A | snv | 0.19 | 5 | ||
rs10994860 | 0.925 | 0.120 | 10 | 50885664 | 5 prime UTR variant | C/T | snv | 0.19 | 5 | ||
rs10821905 | 0.925 | 0.120 | 10 | 50886333 | upstream gene variant | G/A;T | snv | 4 | |||
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 35 | ||
rs186459505 | 0.925 | 0.120 | 3 | 52907083 | missense variant | G/A;T | snv | 1.1E-04; 4.0E-06 | 5 | ||
rs35258188 | 1.000 | 0.040 | 15 | 53705141 | missense variant | T/G | snv | 3.5E-03 | 1.5E-02 | 4 | |
rs12313306 | 12 | 57358071 | intron variant | C/T | snv | 0.19 | 2 | ||||
rs1106766 | 0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 | 7 | ||
rs3741414 | 0.925 | 0.120 | 12 | 57450266 | 3 prime UTR variant | C/T | snv | 0.19 | 7 | ||
rs6026578 | 20 | 58888417 | 5 prime UTR variant | C/G | snv | 0.60 | 4 | ||||
rs1407040 | 20 | 58897119 | intron variant | C/T | snv | 0.70 | 4 | ||||
rs11554266 | 1.000 | 0.040 | 20 | 58903791 | splice region variant | C/G;T | snv | 4.0E-06; 2.3E-03 | 4 | ||
rs9895661 | 0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 | 10 | ||
rs2079742 | 0.851 | 0.240 | 17 | 61388336 | non coding transcript exon variant | T/C | snv | 0.20 | 9 | ||
rs4014195 | 0.882 | 0.200 | 11 | 65739351 | intergenic variant | C/G | snv | 0.31 | 7 | ||
rs202007714 | 1.000 | 0.040 | 3 | 66383098 | missense variant | G/A;C | snv | 1.4E-04; 4.0E-06 | 4 | ||
rs626277 | 1.000 | 0.080 | 13 | 71773564 | intron variant | A/C | snv | 0.51 | 5 | ||
rs143231463 | 1.000 | 0.040 | 6 | 7226577 | missense variant | A/G | snv | 1.8E-04 | 2.1E-04 | 3 | |
rs2472297 | 0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 | 9 | ||
rs1394125 | 0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv | 7 | |||
rs4886755 | 0.925 | 0.120 | 15 | 76005791 | non coding transcript exon variant | A/G;T | snv | 0.49 | 6 | ||
rs11072567 | 15 | 76006403 | intron variant | A/G | snv | 0.43 | 5 |