Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs398124401 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 26 | |
rs61755783 | 0.763 | 0.080 | 6 | 42721911 | missense variant | G/A | snv | 1.4E-05 | 11 | ||
rs1057515576 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 9 | |||
rs76216585 | 0.807 | 0.160 | 12 | 89492071 | stop gained | C/A;G;T | snv | 8.5E-06; 2.7E-04 | 9 | ||
rs147030232 | 0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 | 8 | ||
rs61750172 | 0.807 | 0.080 | 17 | 8014700 | missense variant | C/A;T | snv | 4.0E-06 | 8 | ||
rs121909398 | 0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 | 7 | ||
rs147876778 | 0.807 | 0.120 | 8 | 86632864 | missense variant | C/T | snv | 4.6E-03 | 1.8E-03 | 6 | |
rs61750173 | 0.827 | 0.080 | 17 | 8014701 | missense variant | G/A | snv | 6 | |||
rs751163782 | 0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 5 | ||
rs875989778 | 0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv | 5 | |||
rs41292677 | 0.882 | 0.080 | 1 | 94001992 | missense variant | C/G | snv | 3.0E-03 | 3.0E-03 | 3 | |
rs753994107 | 0.925 | 0.080 | 2 | 181603835 | splice donor variant | A/C;T | snv | 3 | |||
rs140451304 | 0.882 | 0.120 | 21 | 44333188 | missense variant | C/G;T | snv | 3.1E-04; 8.2E-06 | 3 | ||
rs1432600424 | 0.882 | 0.120 | 2 | 96799118 | stop gained | C/G;T | snv | 7.0E-06 | 3 | ||
rs759359491 | 0.882 | 0.040 | 12 | 55721287 | missense variant | G/A;T | snv | 1.6E-05 | 3 | ||
rs606231180 | 0.925 | 0.080 | X | 38285902 | frameshift variant | CC/- | delins | 3 | |||
rs113106943 | 0.925 | 0.040 | 1 | 94021848 | missense variant | C/T | snv | 2.4E-03 | 2.3E-03 | 2 | |
rs61753046 | 0.925 | 0.040 | 1 | 93997932 | stop gained | G/A;T | snv | 5.2E-05; 4.0E-06 | 2 | ||
rs117522010 | 0.925 | 0.120 | 2 | 98396575 | missense variant | G/A;T | snv | 1.6E-05 | 2 | ||
rs146195955 | 0.925 | 0.120 | 2 | 98396137 | missense variant | G/C | snv | 7.6E-05 | 3.2E-04 | 2 | |
rs149648640 | 0.925 | 0.080 | 9 | 2729470 | stop gained | G/A;T | snv | 1.3E-04; 2.0E-05 | 2 | ||
rs1568725951 | 1.000 | 0.040 | 20 | 25320294 | stop gained | C/T | snv | 1 | |||
rs1238632042 | 1.000 | 0.040 | 2 | 169492899 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs137853921 | 1.000 | 0.040 | 2 | 169493769 | missense variant | A/G | snv | 4.2E-03 | 3.7E-03 | 1 |