Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs145999922 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 5 | |
rs1105879 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 11 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs763000109 | 0.827 | 0.240 | 6 | 31575788 | missense variant | C/G;T | snv | 4.1E-06; 1.6E-05 | 9 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs587777057 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 8 | |||
rs117067974 | 0.851 | 0.080 | 20 | 63414174 | missense variant | C/A;G | snv | 2.0E-05; 2.6E-03 | 5 | ||
rs74315390 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 8 | |||
rs118192211 | 0.790 | 0.080 | 20 | 63439644 | missense variant | G/A;C | snv | 9 | |||
rs6295 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 40 | ||
rs368001837 | 0.851 | 0.080 | 7 | 66638895 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 6 | |
rs63750231 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 23 | |||
rs2606345 | 0.732 | 0.360 | 15 | 74724835 | intron variant | C/A | snv | 0.46 | 16 | ||
rs121909731 | 0.851 | 0.120 | 10 | 87057692 | missense variant | G/A;C | snv | 4.0E-06 | 7 | ||
rs56275071 | 0.882 | 0.120 | 10 | 87062757 | missense variant | G/A | snv | 4 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs113994097 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 22 | |
rs113994095 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 31 | |
rs1064797102 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 15 | |||
rs368313959 | 0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 | 8 | |
rs759317757 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 12 | |||
rs1064797103 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 9 | |||
rs869320632 | 0.925 | 0.040 | 2 | 96739883 | missense variant | C/T | snv | 4 |