Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137852538 | 0.925 | 0.080 | X | 78117385 | missense variant | A/T | snv | 3 | |||
rs1426868527 | 1 | 20633841 | missense variant | G/A;T | snv | 3 | |||||
rs1555727942 | 0.925 | 0.160 | 19 | 15180807 | missense variant | G/A | snv | 3 | |||
rs63751165 | 0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv | 3 | |||
rs74315360 | 0.925 | 0.040 | 1 | 20638104 | missense variant | C/A | snv | 3 | |||
rs1057518882 | MT | 14598 | missense variant | T/C | snv | 2 | |||||
rs1239756674 | 1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv | 2 | |||
rs2421947 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 2 | |||
rs63750680 | 1.000 | 0.080 | 14 | 73198076 | missense variant | T/C | snv | 2 | |||
rs45467995 | 1 | 20649062 | missense variant | G/A | snv | 1 | |||||
rs756677845 | 1 | 20638074 | frameshift variant | G/- | del | 1 | |||||
rs781652026 | 10 | 100989789 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||||
rs1417802320 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 1 | ||||
rs761807915 | 0.925 | 0.120 | 20 | 4699824 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs542171324 | 0.851 | 0.160 | 4 | 89828148 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 6 | ||
rs104894685 | 0.925 | 0.120 | 19 | 48966317 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs104893875 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 13 | ||
rs121918304 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs1290141855 | 1.000 | 0.040 | 16 | 55698539 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs767543900 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs5569 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 19 | ||
rs369634041 | 6 | 162262647 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 3 | ||||
rs74315356 | 0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs762999184 | 1.000 | 0.080 | 22 | 32478989 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 2 |