Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs879253799 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 5 | |||
rs878853161 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 7 | |||
rs869025222 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 9 | |||
rs869025221 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 5 | |||
rs864309484 | 1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv | 4 | |||
rs80358259 | 0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 | 9 | |
rs80358233 | 1.000 | 0.080 | 9 | 129814062 | inframe deletion | CTC/- | delins | 4.9E-05 | 2 | ||
rs80356537 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 17 | |||
rs80338892 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 3 | |
rs797045055 | 1.000 | 0.080 | MT | 14597 | missense variant | A/G | snv | 2 | |||
rs796065306 | 1.000 | 0.080 | 3 | 123319754 | missense variant | C/T | snv | 4 | |||
rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
rs786205861 | 1.000 | 0.120 | 19 | 12896913 | missense variant | C/T | snv | 3 | |||
rs786205675 | 1.000 | 0.080 | 1 | 32889123 | missense variant | C/A | snv | 3 | |||
rs775863165 | 1.000 | 0.080 | 1 | 32889110 | missense variant | C/A;T | snv | 4.0E-06 | 3 | ||
rs771610752 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 3 | |
rs761104644 | 19 | 53109614 | missense variant | A/G | snv | 4.0E-06 | 2 | ||||
rs760743322 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs754609693 | 0.925 | 0.040 | 10 | 133366967 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 3 | |
rs753374463 | 18 | 11689847 | missense variant | T/C | snv | 2.2E-05 | 2.1E-05 | 2 | |||
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs748787734 | 0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 | 13 | ||
rs74315442 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 10 | |
rs727502811 | 0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 | 6 |