Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909244 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs1272388614 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 5 | |
rs12836771 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 4 | ||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs13266634 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 23 | ||
rs13412852 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 4 | ||
rs1375557127 | 0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs137853238 | 0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv | 6 | |||
rs137853240 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 8 | ||
rs1385251852 | 0.925 | 0.080 | 20 | 44406208 | frameshift variant | G/- | delins | 2 | |||
rs1387153 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 10 | |||
rs1392795567 | 0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv | 2 | |||
rs1410713 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 1 | ||
rs1446306735 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 3 | |||
rs1447680989 | 1.000 | 0.040 | 2 | 27501147 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs146488435 | 0.851 | 0.080 | 17 | 63533914 | missense variant | C/G;T | snv | 8.0E-06; 6.4E-05 | 5 | ||
rs1562715574 | 0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv | 2 | |||
rs1564865302 | 0.925 | 0.040 | 11 | 17387395 | missense variant | G/A | snv | 2 | |||
rs1564911425 | 0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv | 2 | |||
rs1565886545 | 0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv | 2 | |||
rs1568724014 | 0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv | 2 | |||
rs164147 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 3 | ||
rs17817449 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 21 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 |