Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs899127658 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 82 | |||
rs751377893 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 65 | ||
rs6025 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 43 | ||
rs398124401 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 26 | |
rs368927897 | 0.790 | 0.240 | 9 | 5072541 | missense variant | G/A;T | snv | 2.8E-05; 6.4E-05 | 9 | ||
rs2227589 | 0.925 | 0.120 | 1 | 173917078 | intron variant | C/T | snv | 9.6E-02 | 3 | ||
rs1248438558 | 0.925 | 0.120 | 13 | 113149020 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs121909552 | 0.925 | 0.080 | 1 | 173914725 | missense variant | C/T | snv | 9.5E-05 | 1.7E-04 | 2 | |
rs121909567 | 0.925 | 0.120 | 1 | 173914570 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs1487411568 | 0.925 | 0.120 | 1 | 173903969 | missense variant | G/A;T | snv | 7.0E-06 | 2 | ||
rs1170430756 | 1.000 | 0.080 | 1 | 173911987 | missense variant | T/C | snv | 8.0E-06 | 1 | ||
rs121909547 | 1.000 | 0.080 | 1 | 173914726 | missense variant | G/A;T | snv | 4.8E-05 | 1 | ||
rs121909551 | 1.000 | 0.080 | 1 | 173914743 | missense variant | G/A | snv | 8.2E-04 | 9.0E-04 | 1 | |
rs121909558 | 1.000 | 0.080 | 1 | 173914845 | missense variant | A/T | snv | 1 | |||
rs121909560 | 1.000 | 0.080 | 1 | 173909737 | frameshift variant | CT/- | delins | 1 | |||
rs121909561 | 1.000 | 0.080 | 1 | 173909681 | frameshift variant | TCCA/- | delins | 1 | |||
rs121909562 | 1.000 | 0.080 | 1 | 173911942 | stop gained | G/A | snv | 1 | |||
rs121909563 | 1.000 | 0.080 | 1 | 173911941 | missense variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 1 | ||
rs121909565 | 1.000 | 0.080 | 1 | 173909564 | missense variant | A/G | snv | 1 | |||
rs121909569 | 1.000 | 0.080 | 1 | 173911981 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs121909570 | 1.000 | 0.080 | 1 | 173911923 | missense variant | T/C;G | snv | 1 | |||
rs121909571 | 1.000 | 0.080 | 1 | 173910861 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs121909572 | 1.000 | 0.080 | 1 | 173910849 | missense variant | A/G | snv | 1 |