Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28368082 | 20 | 57335452 | missense variant | C/T | snv | 5.7E-05 | 1 | ||||
rs35033974 | 19 | 43416460 | missense variant | G/T | snv | 8.3E-02 | 8.3E-02 | 1 | |||
rs372015936 | 2 | 197743089 | missense variant | G/A;C | snv | 4.1E-05; 4.1E-06 | 1 | ||||
rs3750075 | 7 | 73329400 | missense variant | C/A;T | snv | 2.4E-03 | 8.7E-04 | 1 | |||
rs375376464 | 16 | 11276355 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs3817444 | 4 | 55509814 | intron variant | A/C | snv | 0.69 | 1 | ||||
rs4804490 | 19 | 10156335 | intron variant | C/A | snv | 0.11 | 1 | ||||
rs4844247 | X | 70670451 | missense variant | C/T | snv | 0.10 | 7.8E-02 | 1 | |||
rs6068020 | 20 | 51943113 | intergenic variant | T/C | snv | 0.63 | 1 | ||||
rs6124715 | 20 | 45548848 | upstream gene variant | C/G;T | snv | 1 | |||||
rs6476866 | 9 | 4459274 | intergenic variant | G/A | snv | 0.55 | 1 | ||||
rs6631 | 6 | 87085541 | 3 prime UTR variant | A/T | snv | 0.40 | 1 | ||||
rs72609647 | Y | 12678428 | intron variant | T/G | snv | 4.6E-03 | 1 | ||||
rs751680143 | 7 | 100198542 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 1 | |||
rs8069533 | 17 | 7294314 | missense variant | A/G | snv | 0.46 | 0.48 | 1 | |||
rs952566855 | 11 | 108259068 | missense variant | A/G | snv | 7.0E-06 | 1 | ||||
rs9814870 | 3 | 95969999 | intergenic variant | A/G;T | snv | 0.19 | 1 | ||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 |