Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61751374 | 0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 10 | |
rs1800728 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 8 | |
rs201471607 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 7 | |
rs61751392 | 0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 | 7 | |
rs62645944 | 0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 | 7 | |
rs281865377 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 6 | ||
rs76157638 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 6 | ||
rs1800552 | 0.851 | 0.080 | 1 | 94010821 | missense variant | C/T | snv | 1.6E-03 | 1.5E-03 | 4 | |
rs41292677 | 0.882 | 0.080 | 1 | 94001992 | missense variant | C/G | snv | 3.0E-03 | 3.0E-03 | 3 | |
rs61749414 | 0.882 | 0.080 | 1 | 94062611 | stop gained | G/A;T | snv | 3 | |||
rs61749451 | 0.925 | 0.080 | 1 | 94046922 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 | 3 | ||
rs61750639 | 0.882 | 0.080 | 1 | 94007710 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs61751399 | 0.882 | 0.080 | 1 | 94041367 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 3 | |
rs1553192726 | 1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv | 2 | |||
rs1801581 | 0.925 | 0.080 | 1 | 94047009 | missense variant | C/A;T | snv | 2.8E-05; 3.0E-02 | 2 | ||
rs3112831 | 1.000 | 0.080 | 1 | 94078678 | missense variant | T/C;G | snv | 0.26 | 0.26 | 2 | |
rs61753030 | 0.925 | 0.080 | 1 | 94014542 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 2 | ||
rs749526785 | 0.925 | 0.080 | 1 | 93997842 | splice region variant | GCCCCAGGGCCAACT/- | delins | 6.8E-05 | 2 | ||
rs794727903 | 0.925 | 0.080 | 1 | 94080697 | stop gained | G/A | snv | 2 | |||
rs1064793013 | 1.000 | 0.080 | 1 | 94008300 | splice region variant | G/A;T | snv | 1 | |||
rs1553188588 | 1.000 | 0.080 | 1 | 94021235 | splice region variant | C/T | snv | 1 | |||
rs779466403 | 1.000 | 0.080 | 1 | 94055161 | missense variant | T/A | snv | 1 | |||
rs863223338 | 1.000 | 0.080 | 1 | 94044736 | frameshift variant | A/- | del | 1 | |||
rs587777602 | 0.882 | 0.160 | 20 | 25302260 | missense variant | G/C | snv | 3 | |||
rs1310063298 | 1.000 | 0.080 | 8 | 26864701 | missense variant | C/A | snv | 4.0E-06 | 2 |