Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs672601370 | 0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv | 13 | |||
rs672601368 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 10 | |||
rs672601369 | 0.790 | 0.120 | 2 | 240783780 | missense variant | C/T | snv | 10 | |||
rs672601362 | 0.851 | 0.080 | 2 | 240789246 | missense variant | G/A | snv | 7 | |||
rs672601367 | 0.851 | 0.080 | 2 | 240785066 | missense variant | T/G | snv | 7 | |||
rs672601363 | 0.851 | 0.080 | 2 | 240788109 | missense variant | C/T | snv | 6 | |||
rs1114167295 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 6 | |||
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 30 | |||
rs267607232 | 0.925 | 11 | 93796509 | missense variant | T/C | snv | 2 | ||||
rs747176196 | 1.000 | 1 | 11989329 | missense variant | C/T | snv | 4.0E-06; 1.6E-05 | 3 | |||
rs1555570110 | 0.827 | 0.240 | 17 | 7586766 | missense variant | A/C | snv | 9 | |||
rs774277300 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 17 | ||
rs1208636573 | 0.807 | 0.120 | 1 | 155612098 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 15 | ||
rs622288 | 0.807 | 0.120 | 1 | 155612848 | missense variant | C/T | snv | 3.6E-05 | 4.2E-05 | 15 | |
rs58982919 | 0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv | 10 | |||
rs58332872 | 0.882 | 0.080 | 8 | 24956248 | missense variant | C/T | snv | 5 | |||
rs1225198785 | 1.000 | 16 | 56839030 | missense variant | T/G | snv | 7.0E-06 | 1 | |||
rs371707121 | 1.000 | 16 | 56834199 | missense variant | C/T | snv | 2.0E-05 | 1.2E-04 | 1 | ||
rs1555789140 | 0.882 | 0.120 | 20 | 17970217 | frameshift variant | C/- | delins | 4 | |||
rs587777186 | 0.925 | 18 | 62146023 | missense variant | A/G;T | snv | 3 | ||||
rs730882224 | 0.882 | 0.120 | 19 | 49861818 | frameshift variant | -/GTCGATGGCGACCCGTT | delins | 3 | |||
rs929413725 | 1.000 | 19 | 53884181 | stop gained | C/T | snv | 2 | ||||
rs63750687 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 33 | |||
rs63750306 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 17 | |||
rs63751287 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 13 |