Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10068737 | 5 | 118700852 | intergenic variant | T/A;C | snv | 1 | |||||
rs12575381 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 1 | ||||
rs270184 | 5 | 5124466 | upstream gene variant | C/A;T | snv | 1 | |||||
rs2880072 | 6 | 159404417 | downstream gene variant | G/A | snv | 0.49 | 1 | ||||
rs2887915 | 2 | 210689850 | intergenic variant | C/G;T | snv | 1 | |||||
rs500456 | 7 | 54531089 | intergenic variant | A/G | snv | 0.47 | 1 | ||||
rs7195832 | 16 | 19947804 | intergenic variant | T/A | snv | 1 | |||||
rs883484 | 9 | 122362748 | intergenic variant | C/T | snv | 0.20 | 1 | ||||
rs478333 | 2 | 168922646 | 3 prime UTR variant | G/A | snv | 0.46 | 1 | ||||
rs762533455 | 5 | 148827300 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs12721226 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 1 | |||
rs6546837 | 2 | 73450771 | missense variant | G/C;T | snv | 0.27 | 1 | ||||
rs3803278 | 13 | 30744264 | non coding transcript exon variant | T/C | snv | 0.20 | 1 | ||||
rs142480126 | 19 | 44907825 | missense variant | G/A | snv | 8.0E-06 | 1 | ||||
rs188780113 | 11 | 64911072 | missense variant | G/A | snv | 5.7E-04 | 1.5E-04 | 1 | |||
rs78351985 | 4 | 99655532 | upstream gene variant | A/G | snv | 3.2E-04 | 1 | ||||
rs1500896 | 8 | 95474454 | intron variant | G/A;C | snv | 1 | |||||
rs7784820 | 7 | 80420717 | intron variant | A/G | snv | 0.16 | 1 | ||||
rs775077692 | 16 | 56963027 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs2271683 | 2 | 189009011 | missense variant | A/G | snv | 4.4E-03 | 1.6E-03 | 1 | |||
rs17384213 | 1 | 85418938 | intron variant | G/A | snv | 0.13 | 1 | ||||
rs4555246 | 18 | 69609486 | intron variant | G/A;T | snv | 1 | |||||
rs571461077 | 18 | 69609487 | intron variant | ATAAATAA/-;ATAA;ATAAATAAATAA;ATAAATAAATAAATAA;ATAAATAAATAAATAAATAA;ATAAATAAATAAATAAATAAATAA | delins | 1 | |||||
rs58206678 | 18 | 69609487 | intron variant | ATAAATAA/-;ATAA;ATAAATAAATAA;ATAAATAAATAAATAA;ATAAATAAATAAATAAATAA;ATAAATAAATAAATAAATAAATAA | delins | 1 | |||||
rs3779748 | 8 | 71335939 | intron variant | T/C | snv | 0.33 | 1 |