Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs36212066 | 0.882 | 0.080 | 11 | 47332275 | intron variant | AGGGAAGCCATCCAGGCTGAGAGGG/- | delins | 4.0E-03 | 8.9E-04 | 3 | |
rs199865688 | 0.925 | 0.080 | 11 | 47337496 | missense variant | C/T | snv | 1.5E-03 | 1.2E-03 | 2 | |
rs190765116 | 1.000 | 0.040 | 11 | 47336000 | stop gained | C/A;T | snv | 5.4E-04 | 1.2E-04 | 1 | |
rs201278114 | 0.925 | 0.120 | 11 | 47352635 | missense variant | C/A;G | snv | 4.3E-06; 3.0E-04 | 2 | ||
rs573916965 | 0.827 | 0.080 | 11 | 47346297 | stop gained | C/A;T | snv | 2.5E-04 | 4 | ||
rs730880565 | 1.000 | 0.080 | 11 | 47337722 | missense variant | G/A | snv | 1.4E-04 | 5.6E-05 | 1 | |
rs199728019 | 1.000 | 0.080 | 11 | 47341995 | missense variant | C/T | snv | 1.2E-04 | 7.0E-05 | 1 | |
rs397516039 | 1.000 | 0.040 | 11 | 47332133 | stop gained | A/C;G | snv | 1.0E-04 | 1 | ||
rs367947846 | 1.000 | 0.040 | 11 | 47346298 | stop gained | G/A;C | snv | 7.7E-05 | 2 | ||
rs727503167 | 0.925 | 0.080 | 11 | 47332123 | missense variant | C/T | snv | 6.8E-05 | 1.4E-05 | 2 | |
rs371061770 | 0.882 | 0.080 | 11 | 47333610 | missense variant | G/A;C | snv | 6.6E-05 | 4.2E-05 | 1 | |
rs397516050 | 0.925 | 0.080 | 11 | 47350077 | missense variant | C/T | snv | 6.5E-05 | 1.0E-04 | 2 | |
rs727504235 | 0.925 | 0.080 | 11 | 47333742 | missense variant | C/T | snv | 5.5E-05 | 3.5E-05 | 1 | |
rs730880698 | 1.000 | 0.040 | 11 | 47351294 | stop gained | G/A;C;T | snv | 5.3E-05 | 1 | ||
rs190228518 | 1.000 | 0.080 | 11 | 47343070 | stop gained | G/A;T | snv | 4.9E-05 | 1 | ||
rs375675796 | 0.925 | 0.080 | 11 | 47337564 | missense variant | C/A;G;T | snv | 4.8E-05 | 2 | ||
rs375347534 | 1.000 | 0.080 | 11 | 47342750 | splice region variant | C/A;T | snv | 8.0E-06; 4.0E-05 | 1 | ||
rs727503192 | 0.925 | 0.080 | 11 | 47339718 | frameshift variant | AG/C;T | delins | 4.0E-05 | 2 | ||
rs375882485 | 0.827 | 0.080 | 11 | 47342698 | missense variant | G/A | snv | 4.0E-05 | 9.8E-05 | 4 | |
rs371488302 | 0.925 | 0.080 | 11 | 47337792 | missense variant | C/T | snv | 4.0E-05 | 3.5E-05 | 2 | |
rs201078659 | 0.925 | 0.080 | 11 | 47346380 | intron variant | G/A;C;T | snv | 3.3E-05 | 2 | ||
rs397515912 | 0.925 | 0.080 | 11 | 47342611 | missense variant | C/A;G;T | snv | 1.2E-05; 3.2E-05 | 3 | ||
rs371564200 | 1.000 | 0.080 | 11 | 47341207 | missense variant | C/G;T | snv | 3.1E-05; 1.3E-05 | 1 | ||
rs727503195 | 0.925 | 0.080 | 11 | 47341991 | missense variant | C/T | snv | 3.0E-05 | 4.9E-05 | 2 | |
rs397516049 | 0.925 | 0.080 | 11 | 47350082 | frameshift variant | -/T | delins | 3.0E-05 | 7.0E-06 | 3 |