Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587778966 | 0.925 | 0.160 | 3 | 36996698 | frameshift variant | -/C | delins | 3 | |||
rs140516819 | 7 | 55172999 | missense variant | A/C;G | snv | 4.0E-05 | 2.4E-04 | 4 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs879253942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 28 | |||
rs56848936 | 0.776 | 0.080 | 19 | 45818249 | intron variant | A/G | snv | 1.9E-02 | 11 | ||
rs768824654 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 6 | ||
rs7987649 | 0.925 | 0.080 | 13 | 28320278 | intron variant | A/G | snv | 0.35 | 4 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs201744589 | 0.882 | 0.240 | 17 | 7673728 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 6 | ||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 11 | ||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs412396 | 20 | 43657322 | downstream gene variant | C/G | snv | 0.77 | 2 | ||||
rs864622553 | 7 | 5987540 | missense variant | C/G | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs772468040 | 13 | 28057413 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 2 | ||||
rs779512948 | 7 | 5989800 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||||
rs12953717 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 18 | ||
rs112431538 | 1.000 | 0.120 | 17 | 7673767 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
rs1441008398 | 5 | 112839334 | missense variant | C/T | snv | 4.0E-06 | 4 | ||||
rs35918369 | 7 | 55205613 | missense variant | C/T | snv | 3.1E-04 | 3.3E-04 | 4 | |||
rs876660427 | 5 | 112838608 | missense variant | C/T | snv | 4 |