Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 53 | ||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 21 | |||
rs8179090 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 12 | ||
rs751713049 | 0.851 | 0.200 | 17 | 76736877 | missense variant | G/A;C;T | snv | 6.3E-05; 2.9E-05; 1.2E-04 | 5 | ||
rs1131691041 | 17 | 7676271 | frameshift variant | -/A | delins | 3 | |||||
rs72661120 | 17 | 7673717 | synonymous variant | T/C | snv | 2.7E-04 | 7.0E-05 | 1 | |||
rs243865 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 48 | ||
rs1800067 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 17 | |
rs767232094 | 1.000 | 0.040 | 16 | 55484157 | synonymous variant | C/T | snv | 8.0E-06 | 2 | ||
rs118101777 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 42 | |
rs121913502 | 0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 | 19 | ||
rs1801320 | 0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 | 15 | ||
rs267606870 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 11 | |||
rs138817062 | 0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 4 | |
rs752492487 | 15 | 40718847 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs745564626 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 14 | ||
rs1805388 | 0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 | 11 | |
rs121913488 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 7 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs397507548 | 0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | snv | 6 | |||
rs4135113 | 0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 | 5 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 73 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 |