Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs373893038 | 5 | 14387508 | missense variant | C/T | snv | 8.0E-06 | 4.2E-05 | 1 | |||
rs79267946 | 1.000 | 0.160 | 8 | 60232322 | stop gained | T/A;C | snv | 2 | |||
rs121908224 | 1.000 | 0.080 | 19 | 13235262 | missense variant | C/T | snv | 2 | |||
rs774214806 | 1.000 | 6 | 146159536 | stop gained | C/A;T | snv | 1.6E-05 | 2 | |||
rs375244209 | 1.000 | 0.040 | 7 | 76302870 | missense variant | G/A | snv | 1.1E-05 | 2 | ||
rs750959420 | 1.000 | 0.080 | 9 | 132311820 | frameshift variant | CTCT/-;CT | delins | 4.0E-06; 2.4E-05 | 3.5E-05 | 2 | |
rs1318256630 | 11 | 66708251 | missense variant | G/A | snv | 4.1E-06 | 2 | ||||
rs397514749 | 1.000 | 0.080 | 11 | 66707731 | missense variant | G/A | snv | 2 | |||
rs80356713 | 0.925 | 0.120 | X | 75070499 | missense variant | C/A;G | snv | 3 | |||
rs1208917022 | 1.000 | 0.040 | 12 | 6936663 | missense variant | A/G | snv | 3 | |||
rs1568440440 | 0.925 | 0.120 | 19 | 13228767 | stop gained | GT/- | delins | 3 | |||
rs148156462 | 0.925 | 0.080 | 4 | 83264287 | missense variant | A/G | snv | 4.2E-03 | 1.6E-03 | 3 | |
rs771578775 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 3 | |
rs149595793 | 1.000 | X | 70492544 | missense variant | G/A | snv | 3.3E-05 | 6.6E-05 | 3 | ||
rs118204095 | 1.000 | 0.160 | 11 | 119091414 | missense variant | G/A;T | snv | 4.5E-05 | 3 | ||
rs118204096 | 1.000 | 0.160 | 11 | 119091432 | missense variant | G/A | snv | 3 | |||
rs587777004 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 3 | ||
rs1057518936 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 3 | |||
rs121918518 | 1.000 | 0.080 | 19 | 53889655 | missense variant | C/G | snv | 3 | |||
rs267607044 | 1.000 | 0.080 | 9 | 132327718 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 3 | |
rs770684782 | 9 | 132288268 | stop gained | G/A | snv | 4.0E-06 | 3 | ||||
rs119456965 | 1.000 | 0.080 | 5 | 139050960 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs1320457487 | 1.000 | 0.120 | 2 | 44301057 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
rs1424215334 | 1.000 | 0.120 | 2 | 44280805 | missense variant | A/G | snv | 2.1E-05 | 3 | ||
rs200248046 | 1.000 | 0.120 | 2 | 44299998 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 3 |