Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs3123543 | 1 | 212617344 | intron variant | T/A;C | snv | 13 | |||||
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 11 | ||
rs12239046 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 7 | ||||
rs34599082 | 1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 | 7 | |||
rs201950044 | 1 | 161639782 | intergenic variant | G/T | snv | 5 | |||||
rs2208568 | 1 | 235926855 | intergenic variant | T/A;C;G | snv | 5 | |||||
rs3917914 | 1 | 36482287 | intron variant | G/A;T | snv | 5 | |||||
rs3917932 | 1 | 36478315 | intron variant | C/G | snv | 0.59 | 5 | ||||
rs663045 | 1 | 108200437 | 5 prime UTR variant | G/C | snv | 0.55 | 5 | ||||
rs7550207 | 1 | 159205095 | intron variant | T/C | snv | 0.19 | 5 | ||||
rs9436747 | 1 | 65445924 | intron variant | T/C | snv | 0.56 | 5 | ||||
rs12752838 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 4 | ||||
rs17592479 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 4 | ||||
rs34293785 | 1 | 65671509 | intergenic variant | T/C | snv | 4 | |||||
rs4844622 | 1 | 207860984 | intron variant | C/T | snv | 0.19 | 4 | ||||
rs56232812 | 1 | 27859995 | intergenic variant | A/C | snv | 0.11 | 4 | ||||
rs7537229 | 1 | 56440602 | intron variant | G/A | snv | 0.92 | 4 | ||||
rs778387 | 1 | 56158423 | intron variant | C/A;G;T | snv | 4 | |||||
rs796415138 | 1 | 45860202 | intron variant | CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA | delins | 0.42 | 3 | ||||
rs146091102 | 1 | 26795439 | intron variant | G/A | snv | 2.2E-02 | 2 | ||||
rs1999537 | 1 | 56439852 | intron variant | G/A | snv | 0.89 | 2 | ||||
rs66538782 | 1 | 46130565 | intron variant | A/-;AA;AAA | delins | 2 | |||||
rs2994007 | 1 | 36415228 | downstream gene variant | G/A;C | snv | 1 | |||||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 |