Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs217434 | 7 | 44513639 | synonymous variant | A/G | snv | 0.16 | 0.17 | 1 | |||
rs2229268 | 2 | 169168573 | synonymous variant | A/G | snv | 0.20 | 0.16 | 1 | |||
rs233575 | X | 15564843 | intron variant | G/A | snv | 1 | |||||
rs3060 | 11 | 75800527 | 3 prime UTR variant | T/C | snv | 0.14 | 0.22 | 1 | |||
rs4646142 | X | 15584941 | intron variant | G/A;C | snv | 1 | |||||
rs66698963 | 11 | 61835025 | intron variant | ACTTCTCCCTGCCTCCCCAGGGACTTCTCCCTGCCTCCCCAGGG/-;ACTTCTCCCTGCCTCCCCAGGG | delins | 0.56 | 1 | ||||
rs7003945 | 8 | 144326802 | 5 prime UTR variant | G/A;C | snv | 1 | |||||
rs730882087 | 19 | 11106640 | missense variant | GG/AC | mnv | 1 | |||||
rs751671151 | 8 | 42180286 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |||
rs770730728 | 7 | 44147757 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs711752 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 10 | |||
rs2072183 | 0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 | 6 | ||
rs2297322 | 1.000 | 0.040 | 13 | 98723927 | missense variant | C/G;T | snv | 0.22 | 4 | ||
rs36217263 | 1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 | 4 | ||
rs4845623 | 0.925 | 0.040 | 1 | 154443301 | intron variant | A/G | snv | 0.47 | 4 | ||
rs633389 | 1.000 | 0.040 | 11 | 116796621 | upstream gene variant | C/T | snv | 0.13 | 4 | ||
rs1211098985 | 1.000 | 0.040 | 5 | 7878128 | missense variant | T/C;G | snv | 4.0E-06 | 3 | ||
rs2472386 | 1.000 | 0.040 | 9 | 104839260 | intron variant | G/A | snv | 0.47 | 3 | ||
rs28942112 | 0.925 | 0.040 | 1 | 55052400 | missense variant | T/C | snv | 3 | |||
rs4253778 | 1.000 | 0.040 | 22 | 46234737 | intron variant | G/C;T | snv | 3 | |||
rs10488698 | 1.000 | 0.040 | 11 | 116763231 | missense variant | G/A | snv | 6.4E-02 | 4.8E-02 | 2 | |
rs11066782 | 1.000 | 0.040 | 12 | 109472747 | intron variant | C/T | snv | 0.17 | 2 | ||
rs11067233 | 1.000 | 0.040 | 12 | 109556403 | 3 prime UTR variant | C/G | snv | 0.23 | 0.24 | 2 | |
rs11613718 | 1.000 | 0.040 | 12 | 109474527 | intron variant | C/T | snv | 0.17 | 2 | ||
rs11774572 | 1.000 | 0.040 | 8 | 11589291 | regulatory region variant | C/G;T | snv | 2 |