Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2968857 | 1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 | 2 | ||
rs3211892 | 1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 | 2 | |
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs4977574 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 26 | |||
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs1904694 | 10 | 51145734 | intron variant | A/G | snv | 0.45 | 1 | ||||
rs532019808 | 0.827 | 0.120 | 11 | 89451807 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 8 | ||
rs2430561 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 50 | ||
rs121918460 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 27 | ||
rs216311 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 7 | ||
rs148398509 | 0.882 | 0.160 | 15 | 73323445 | missense variant | G/C | snv | 7.8E-03 | 7.2E-03 | 5 | |
rs376970496 | 15 | 69028303 | missense variant | T/C | snv | 1 | |||||
rs397515126 | 16 | 2084306 | frameshift variant | -/TCTCCTCG | delins | 1 | |||||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs1064794243 | 0.851 | 0.200 | 17 | 63941169 | missense variant | A/T | snv | 5 | |||
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 36 | |
rs11549029 | 19 | 35756950 | missense variant | G/A | snv | 8.9E-04 | 1.3E-03 | 1 | |||
rs104894833 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 11 | |
rs763802417 | 0.882 | 0.040 | X | 100862805 | missense variant | G/A | snv | 5.9E-06 | 5 | ||
rs28935490 | 1.000 | 0.160 | X | 101398432 | missense variant | C/A;T | snv | 3.0E-03; 5.4E-06 | 3 |