Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 14 | ||
rs1415088003 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 7 | ||
rs1205538057 | 0.827 | 0.200 | 17 | 63483937 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs1241356540 | 0.851 | 0.160 | 17 | 63497137 | missense variant | C/T | snv | 5 | |||
rs142677199 | 0.882 | 0.040 | 17 | 63479897 | missense variant | G/A;T | snv | 3.2E-05 | 4 | ||
rs143830698 | 0.882 | 0.120 | 17 | 63488659 | missense variant | G/A | snv | 8.4E-05 | 4 | ||
rs761401927 | 0.882 | 0.040 | 17 | 63488704 | missense variant | G/A | snv | 9.1E-05 | 4 | ||
rs867394500 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 4 | |||
rs767425642 | 0.882 | 0.120 | 17 | 63489010 | missense variant | G/A;T | snv | 3.2E-05; 4.0E-06 | 3 | ||
rs1042309696 | 17 | 63487006 | synonymous variant | T/C | snv | 2 | |||||
rs1334067073 | 0.925 | 0.120 | 17 | 63478025 | missense variant | C/G;T | snv | 4.2E-06 | 2 | ||
rs1455404812 | 1.000 | 0.080 | 17 | 63488732 | missense variant | C/T | snv | 2 | |||
rs28730839 | 17 | 63483140 | missense variant | C/A;G | snv | 4.0E-06; 4.8E-04 | 2 | ||||
rs34126458 | 0.925 | 0.080 | 17 | 63481575 | missense variant | G/A;T | snv | 3.6E-05; 7.4E-04 | 2 | ||
rs4329 | 17 | 63486097 | intron variant | A/C;G | snv | 2 | |||||
rs4344 | 17 | 63489363 | intron variant | G/A;C | snv | 2 | |||||
rs4363 | 1.000 | 0.080 | 17 | 63497131 | splice region variant | G/A;C | snv | 0.52 | 2 | ||
rs538166970 | 0.925 | 0.080 | 17 | 63496920 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs750712925 | 0.925 | 0.080 | 17 | 63477227 | missense variant | G/A;C;T | snv | 3.2E-05 | 2 | ||
rs121912704 | 1.000 | 0.120 | 17 | 63480479 | stop gained | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 1 | ||
rs1221928144 | 1.000 | 0.040 | 17 | 63477950 | missense variant | G/A;C | snv | 8.2E-06 | 1 | ||
rs12720742 | 1.000 | 0.040 | 17 | 63496923 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-04 | 1 |