Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2772579 | 9 | 24545697 | 5 prime UTR variant | G/C | snv | 0.25 | 0.25 | 1 | |||
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 | ||||
rs2477686 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 7 | ||
rs10842262 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 5 | ||
rs121918346 | 0.882 | 0.040 | 3 | 16598169 | missense variant | T/C;G | snv | 8.0E-06 | 5 | ||
rs6080550 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 5 | ||
rs12097821 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 4 | |||
rs1059060 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 3 | |||
rs11204546 | 0.925 | 0.040 | 1 | 247896410 | missense variant | T/C;G | snv | 0.58; 4.0E-06 | 3 |