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 | |
rs1425743194 | 1.000 | 0.120 | 9 | 131144316 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs200048001 | 1.000 | 0.120 | 1 | 155213256 | missense variant | T/C | snv | 1.9E-02 | 1.7E-02 | 1 | |
rs75822236 | 0.752 | 0.200 | 1 | 155235002 | missense variant | C/T | snv | 1.8E-04 | 6.1E-05 | 10 | |
rs1327336561 | 1.000 | 0.120 | 1 | 155235089 | missense variant | T/C | snv | 8.5E-06 | 1 | ||
rs80356772 | 0.790 | 0.160 | 1 | 155235195 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 9 | |
rs80356771 | 0.776 | 0.160 | 1 | 155235196 | missense variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 8 | ||
rs756858487 | 1.000 | 0.120 | 1 | 155235214 | missense variant | C/T | snv | 2.0E-05 | 1 | ||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs121908295 | 0.925 | 0.120 | 1 | 155235708 | missense variant | G/C | snv | 2 | |||
rs1557901325 | 1.000 | 0.120 | 1 | 155235712 | stop gained | G/A | snv | 1 | |||
rs77369218 | 0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv | 7 | |||
rs1064651 | 0.732 | 0.360 | 1 | 155235727 | missense variant | C/G | snv | 1.3E-04 | 2.0E-04 | 13 | |
rs80356768 | 0.882 | 0.120 | 1 | 155235750 | frameshift variant | ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- | delins | 3 | |||
rs74598136 | 0.925 | 0.120 | 1 | 155235750 | missense variant | G/A | snv | 2 | |||
rs1553217009 | 0.882 | 0.120 | 1 | 155235757 | missense variant | C/T | snv | 3 | |||
rs747284798 | 1.000 | 0.120 | 1 | 155235769 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs80356769 | 0.776 | 0.160 | 1 | 155235772 | missense variant | C/A | snv | 3.2E-05 | 7.0E-06 | 8 | |
rs149171124 | 1.000 | 0.120 | 1 | 155235790 | stop gained | C/A;T | snv | 1.7E-04 | 1 | ||
rs754743440 | 1.000 | 0.120 | 1 | 155235819 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs1450426641 | 0.851 | 0.160 | 1 | 155235820 | missense variant | A/C | snv | 4.0E-06 | 4 | ||
rs121908311 | 0.827 | 0.120 | 1 | 155235823 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs121908309 | 0.925 | 0.120 | 1 | 155236277 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
rs760307559 | 1.000 | 0.120 | 1 | 155236285 | missense variant | G/A | snv | 8.0E-06 | 1 |