Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1318525693 | 11 | 74006370 | missense variant | C/G;T | snv | 1 | |||||
rs1419367513 | 6 | 159762678 | non coding transcript exon variant | G/A | snv | 1 | |||||
rs1423621991 | 11 | 102796745 | missense variant | C/T | snv | 1 | |||||
rs142480126 | 19 | 44907825 | missense variant | G/A | snv | 8.0E-06 | 1 | ||||
rs1455341183 | 5 | 59038945 | missense variant | C/T | snv | 1 | |||||
rs1500896 | 8 | 95474454 | intron variant | G/A;C | snv | 1 | |||||
rs1564858 | 8 | 118932927 | splice region variant | G/A | snv | 0.11 | 9.9E-02 | 1 | |||
rs17384213 | 1 | 85418938 | intron variant | G/A | snv | 0.13 | 1 | ||||
rs188780113 | 11 | 64911072 | missense variant | G/A | snv | 5.7E-04 | 1.5E-04 | 1 | |||
rs2030712 | 7 | 139610185 | intron variant | C/A;T | snv | 1 | |||||
rs2271683 | 2 | 189009011 | missense variant | A/G | snv | 4.4E-03 | 1.6E-03 | 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 | |||||
rs316029 | 6 | 160265636 | intron variant | T/C | snv | 0.89 | 1 | ||||
rs375411329 | 3 | 12379746 | missense variant | A/G | snv | 7.0E-06 | 1 | ||||
rs3779748 | 8 | 71335939 | intron variant | T/C | snv | 0.33 | 1 | ||||
rs3803278 | 13 | 30744264 | non coding transcript exon variant | T/C | snv | 0.20 | 1 | ||||
rs4555246 | 18 | 69609486 | intron variant | G/A;T | snv | 1 | |||||
rs478333 | 2 | 168922646 | 3 prime UTR variant | G/A | snv | 0.46 | 1 | ||||
rs500456 | 7 | 54531089 | intergenic variant | A/G | snv | 0.47 | 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 | |||||
rs6428106 | 1 | 192585301 | intron variant | G/T | snv | 0.14 | 1 | ||||
rs6546837 | 2 | 73450771 | missense variant | G/C;T | snv | 0.27 | 1 |