Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 48 | ||
rs121913483 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 23 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 14 | |||
rs77543610 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 12 | |||
rs1063192 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 6 | |||
rs11892031 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 4 | |||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 4 | |||
rs217727 | 0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 | 3 | ||
rs28931615 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 3 | |||
rs786204929 | 0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv | 3 | |||
rs9642880 | 0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv | 3 | |||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs17674580 | 0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv | 2 | |||
rs2293607 | 0.807 | 0.200 | 3 | 169764547 | non coding transcript exon variant | T/A;C | snv | 2 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs11543198 | 0.882 | 0.120 | 15 | 74619987 | missense variant | G/A;T | snv | 0.11 | 1 | ||
rs118203385 | 1.000 | 0.120 | 9 | 132923383 | missense variant | A/C;G | snv | 1 | |||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 1 | ||
rs1323541164 | 1.000 | 0.120 | 9 | 132921834 | missense variant | A/C | snv | 1 | |||
rs13278062 | 0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 1 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 1 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 1 | ||
rs2042329 | 0.882 | 0.120 | 5 | 64771925 | intron variant | T/C;G | snv | 1 |