Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs806378 | 1.000 | 0.040 | 6 | 88149832 | intron variant | C/T | snv | 0.21 | 2 | ||
rs373611092 | 0.925 | 0.160 | 22 | 19962794 | missense variant | A/G | snv | 8.4E-05 | 4.9E-05 | 5 | |
rs10166942 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 4 | ||
rs1057518927 | 0.925 | 0.080 | 10 | 124402952 | missense variant | T/C | snv | 4 | |||
rs8904 | 0.925 | 0.120 | 14 | 35402011 | 3 prime UTR variant | G/A;C;T | snv | 0.39; 4.0E-06 | 4 | ||
rs17197936 | 0.925 | 0.040 | 13 | 37601702 | upstream gene variant | T/C | snv | 5.2E-02 | 3 | ||
rs2206593 | 0.925 | 0.080 | 1 | 186673297 | 3 prime UTR variant | A/G | snv | 0.95 | 3 | ||
rs2835859 | 0.925 | 0.200 | 21 | 37645860 | intron variant | T/C | snv | 0.16 | 3 | ||
rs324419 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 3 | ||
rs740603 | 0.925 | 0.040 | 22 | 19957654 | intron variant | A/G | snv | 0.48 | 3 | ||
rs1057518946 | 0.882 | 0.080 | X | 71223816 | missense variant | G/T | snv | 8 | |||
rs10877969 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 6 | ||
rs8007267 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 6 | ||
rs104894561 | 0.882 | 0.120 | 17 | 82265743 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs2653349 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 5 | ||
rs751416416 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 5 | ||
rs138607170 | 0.882 | 0.080 | 3 | 38925454 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 4 | |||
rs80338761 | 0.882 | 0.080 | 17 | 77402298 | missense variant | C/T | snv | 4 | |||
rs8136867 | 0.882 | 0.080 | 22 | 21850504 | intron variant | G/A | snv | 0.55 | 4 | ||
rs1555735545 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 22 | |||
rs781565158 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 22 | |
rs1554781700 | 0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv | 12 | |||
rs769540300 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 8 | ||
rs1044397 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 7 |