Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs1625579 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 14 | ||
rs201765376 | 0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 | 12 | |
rs757511770 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
rs558269137 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 8 | ||
rs11585926 | 1.000 | 0.040 | 1 | 114431068 | intron variant | T/C | snv | 0.22 | 3 | ||
rs11102800 | 1.000 | 0.040 | 1 | 114498310 | intron variant | C/T | snv | 0.58 | 2 | ||
rs1246651989 | 0.925 | 0.160 | 1 | 197435519 | frameshift variant | AG/- | delins | 4.0E-06 | 2 | ||
rs10489525 | 1.000 | 0.040 | 1 | 114721064 | intron variant | G/A | snv | 0.32 | 1 | ||
rs10858047 | 1.000 | 0.040 | 1 | 114531255 | upstream gene variant | T/C | snv | 0.13 | 1 | ||
rs11102807 | 1.000 | 0.040 | 1 | 114518963 | intergenic variant | A/G | snv | 0.44 | 1 | ||
rs11118968 | 1.000 | 0.040 | 1 | 206524916 | intron variant | G/A | snv | 7.5E-02 | 1 | ||
rs11582563 | 1.000 | 0.040 | 1 | 114416918 | intron variant | G/A | snv | 0.14 | 1 | ||
rs11585959 | 1.000 | 0.040 | 1 | 231697972 | intron variant | T/C | snv | 0.27 | 1 | ||
rs11587400 | 1.000 | 0.040 | 1 | 114537037 | non coding transcript exon variant | C/G;T | snv | 1 | |||
rs11589568 | 1.000 | 0.040 | 1 | 114453702 | intron variant | T/C | snv | 0.14 | 1 | ||
rs1202773 | 1.000 | 0.040 | 1 | 57938951 | intron variant | G/A | snv | 0.17 | 1 | ||
rs12035887 | 1.000 | 0.040 | 1 | 57003118 | intron variant | G/T | snv | 0.12 | 1 | ||
rs12726299 | 1.000 | 0.040 | 1 | 115983051 | intron variant | G/A | snv | 0.46 | 1 | ||
rs12740765 | 1.000 | 0.040 | 1 | 58040631 | intron variant | C/T | snv | 0.35 | 1 | ||
rs1877455 | 1.000 | 0.040 | 1 | 114556471 | intergenic variant | C/T | snv | 0.12 | 1 | ||
rs3738556 | 1.000 | 0.040 | 1 | 57069525 | intron variant | C/A;T | snv | 1 |