Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912745 | 0.807 | 0.200 | 17 | 44255708 | missense variant | G/A;T | snv | 9 | |||
rs45562031 | 0.925 | 0.120 | 17 | 44261625 | missense variant | C/T | snv | 1.0E-02 | 1.1E-02 | 2 | |
rs28931584 | 0.925 | 0.200 | 17 | 44257514 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs121912746 | 1.000 | 0.160 | 17 | 44255259 | missense variant | G/A | snv | 1 | |||
rs121912744 | 1.000 | 0.160 | 17 | 44255707 | missense variant | C/T | snv | 1 | |||
rs121912756 | 17 | 44257538 | missense variant | C/T | snv | 8.0E-06 | 1 | ||||
rs863225462 | 1.000 | 0.040 | 17 | 44253228 | missense variant | T/C | snv | 1 | |||
rs863225463 | 1.000 | 0.040 | 17 | 44253369 | missense variant | A/G | snv | 1 | |||
rs863225461 | 1.000 | 0.040 | 17 | 44253238 | missense variant | A/G | snv | 1 | |||
rs75731670 | 17 | 44254581 | missense variant | C/G;T | snv | 8.0E-06; 2.0E-04 | 1 | ||||
rs121912743 | 17 | 44255804 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 1 | ||||
rs769664228 | 1.000 | 0.080 | 17 | 44258043 | inframe deletion | GGCAGCCAGGACCTGGGGGCTGAATGC/- | delins | 4.8E-05 | 4.2E-05 | 1 | |
rs121912752 | 1.000 | 0.200 | 17 | 44251264 | inframe deletion | ACC/- | delins | 4.0E-06 | 1 | ||
rs121912754 | 0.882 | 0.200 | 17 | 44255292 | missense variant | C/G;T | snv | 1 | |||
rs121912748 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 1 | |
rs121912753 | 0.827 | 0.200 | 17 | 44251583 | missense variant | A/G | snv | 1 | |||
rs772264078 | 1.000 | 0.080 | 17 | 44259347 | splice region variant | G/T | snv | 3.6E-05 | 7.0E-06 | 1 | |
rs1555596072 | 1.000 | 0.080 | 17 | 44257518 | stop gained | G/C | snv | 1 | |||
rs56361140 | 1.000 | 0.080 | 17 | 44260441 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs28929480 | 1.000 | 0.080 | 17 | 44260716 | missense variant | C/T | snv | 2.4E-05 | 1.3E-04 | 1 | |
rs121912742 | 1.000 | 0.080 | 17 | 44258512 | stop gained | G/A | snv | 1 | |||
rs1555596165 | 1.000 | 0.080 | 17 | 44257768 | missense variant | A/C | snv | 1 | |||
rs1555596757 | 1.000 | 0.080 | 17 | 44259934 | splice acceptor variant | T/C | snv | 1 | |||
rs28931585 | 1.000 | 0.080 | 17 | 44251206 | missense variant | G/A;T | snv | 1.2E-05 | 1 | ||
rs387906565 | 1.000 | 0.080 | 17 | 44262928 | 5 prime UTR variant | C/T | snv | 2.1E-05 | 1 |