Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
rs121913224 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 14 | |||
rs459552 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 14 | ||
rs878859113 | 0.763 | 0.360 | 6 | 106971734 | missense variant | G/A | snv | 0.35 | 11 | ||
rs454886 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 10 | ||
rs3838646 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 8 | |||
rs52812045 | 0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv | 7 | |||
rs587782868 | 0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 | 5 | ||
rs150973053 | 0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 | 4 | |
rs753314927 | 0.882 | 0.200 | 5 | 112838644 | missense variant | A/G;T | snv | 3 | |||
rs1179254201 | 0.925 | 0.200 | 5 | 112767213 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs1182822563 | 0.925 | 0.200 | 5 | 112828939 | synonymous variant | A/G | snv | 4.0E-06 | 2 | ||
rs1331131200 | 0.925 | 0.200 | 5 | 112827976 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs374853436 | 0.925 | 0.200 | 5 | 112843972 | missense variant | G/A | snv | 1.4E-05 | 2 | ||
rs730882128 | 0.925 | 0.200 | 5 | 112840500 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs749782426 | 0.925 | 0.200 | 5 | 112840377 | missense variant | G/C;T | snv | 8.0E-06; 1.2E-05 | 2 | ||
rs751945983 | 0.925 | 0.200 | 5 | 112821942 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs1058818 | 0.925 | 0.200 | Y | 18991654 | intron variant | C/T | snv | 2 | |||
rs1058881 | 0.925 | 0.200 | Y | 18991085 | intron variant | C/T | snv | 2 |