Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11741826 | 5 | 69294573 | intron variant | G/A;C | snv | 3 | |||||
rs4924590 | 15 | 41941475 | intron variant | T/A | snv | 0.30 | 3 | ||||
rs62312418 | 4 | 73835795 | upstream gene variant | G/A | snv | 0.34 | 3 | ||||
rs796415138 | 1 | 45860202 | intron variant | CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA | delins | 0.42 | 3 | ||||
rs8068017 | 17 | 1417822 | downstream gene variant | T/A;C | snv | 3 | |||||
rs111930700 | 12 | 51967869 | intron variant | C/G | snv | 8.4E-02 | 4 | ||||
rs11361923 | 14 | 77396337 | intron variant | C/- | delins | 0.54 | 4 | ||||
rs11428934 | 19 | 48640988 | intron variant | -/G | ins | 4 | |||||
rs11734460 | 4 | 711285 | intron variant | C/A;T | snv | 4 | |||||
rs11769630 | 7 | 50218107 | intron variant | T/A | snv | 5.4E-02 | 4 | ||||
rs11931598 | 4 | 7045375 | intron variant | C/T | snv | 0.55 | 4 | ||||
rs12752838 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 4 | ||||
rs1352846 | 4 | 71752058 | intron variant | A/G | snv | 0.22 | 4 | ||||
rs138488218 | 12 | 53354069 | regulatory region variant | A/T | snv | 7.6E-03 | 4 | ||||
rs14408 | 11 | 308314 | missense variant | T/C;G | snv | 0.53 | 4 | ||||
rs146318841 | 6 | 135328483 | intron variant | TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG | delins | 4 | |||||
rs1570884 | 13 | 49547375 | intron variant | A/G | snv | 0.58 | 4 | ||||
rs17592479 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 4 | ||||
rs1991651 | 8 | 10848901 | downstream gene variant | C/G | snv | 0.63 | 4 | ||||
rs2029582 | 2 | 113106194 | upstream gene variant | T/C | snv | 0.56 | 4 | ||||
rs2250635 | 15 | 41969267 | intron variant | T/C | snv | 0.18 | 4 | ||||
rs2436845 | 8 | 102840179 | intron variant | G/A | snv | 0.37 | 4 | ||||
rs398032702 | 18 | 46245574 | intron variant | AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA | delins | 4 | |||||
rs552557467 | 11 | 47927817 | regulatory region variant | AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | delins | 0.47 | 4 | ||||
rs56232812 | 1 | 27859995 | intergenic variant | A/C | snv | 0.11 | 4 |