Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs143624519 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 17 | ||
rs33949390 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 9 | ||
rs77369218 | 0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv | 7 | |||
rs387907571 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 6 | |
rs514492 | 0.882 | 0.160 | 9 | 35062975 | splice region variant | C/T | snv | 0.75 | 0.75 | 3 | |
rs104893950 | 0.925 | 0.080 | 6 | 145627691 | stop gained | G/A;C | snv | 7.7E-05 | 2 | ||
rs121917876 | 0.925 | 0.080 | 6 | 18122014 | missense variant | A/T | snv | 2 | |||
rs137852859 | 0.925 | 0.080 | 6 | 18121684 | missense variant | T/G | snv | 2 | |||
rs28940575 | 0.925 | 0.080 | 6 | 18122531 | missense variant | A/T | snv | 8.9E-06 | 7.0E-06 | 2 | |
rs28940576 | 0.925 | 0.080 | 6 | 18122402 | missense variant | G/C | snv | 1.1E-04 | 8.4E-05 | 2 | |
rs587776542 | 0.925 | 0.080 | 6 | 18122138 | frameshift variant | CT/- | del | 4.9E-05 | 2 | ||
rs750465793 | 1.000 | 0.080 | 6 | 18122221 | missense variant | G/T | snv | 8.2E-06 | 1.4E-05 | 2 | |
rs147028059 | 1.000 | 0.080 | 6 | 161785807 | missense variant | T/C;G | snv | 4.0E-06; 1.6E-05 | 2 | ||
rs137852915 | 1.000 | 0.080 | 6 | 145686276 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 1 | |
rs137852916 | 1.000 | 0.080 | 6 | 145635451 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs137852917 | 1.000 | 0.080 | 6 | 145627577 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 1 | ||
rs201053542 | 1.000 | 0.080 | 6 | 145627618 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs375544596 | 1.000 | 0.080 | 6 | 145635382 | missense variant | G/A | snv | 1 | |||
rs587776553 | 1.000 | 0.080 | 6 | 145686262 | stop gained | -/T | delins | 1 | |||
rs587776554 | 1.000 | 0.080 | 6 | 145627458 | frameshift variant | -/A | delins | 1 | |||
rs796052427 | 1.000 | 0.080 | 6 | 145627534 | missense variant | T/A | snv | 1 | |||
rs796052428 | 1.000 | 0.080 | 6 | 145627510 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs104893955 | 1.000 | 0.080 | 6 | 145735405 | missense variant | A/C;T | snv | 1 | |||
rs1362231306 | 1.000 | 0.080 | 6 | 145735247 | missense variant | G/A;C | snv | 6.2E-06 | 1 | ||
rs1034706422 | 1.000 | 0.080 | 6 | 145735235 | missense variant | G/A;T | snv | 6.0E-06 | 1 |