Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs73598374 | 0.790 | 0.280 | 20 | 44651586 | missense variant | C/A;G;T | snv | 7.1E-06; 6.2E-02 | 8 | ||
rs914839065 | 1.000 | 0.120 | 22 | 17209656 | missense variant | C/T | snv | 1 | |||
rs17300539 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 11 | ||
rs12495941 | 0.851 | 0.280 | 3 | 186850391 | intron variant | G/T | snv | 0.35 | 5 | ||
rs2241767 | 0.763 | 0.440 | 3 | 186853407 | intron variant | A/G | snv | 0.10 | 10 | ||
rs17366743 | 0.807 | 0.280 | 3 | 186854300 | missense variant | T/C | snv | 2.2E-02 | 2.1E-02 | 7 | |
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs3774261 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 10 | ||
rs1539355 | 1.000 | 0.120 | 1 | 202954952 | intron variant | A/G | snv | 0.33 | 1 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1801704 | 0.882 | 0.200 | 5 | 148826812 | 5 prime UTR variant | C/T | snv | 0.68 | 0.68 | 3 | |
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs12529 | 0.776 | 0.280 | 10 | 5094459 | missense variant | C/G | snv | 0.50 | 0.45 | 10 | |
rs1937845 | 1.000 | 0.120 | 10 | 5093956 | intron variant | A/G | snv | 0.45 | 1 | ||
rs3763676 | 1.000 | 0.120 | 10 | 5094307 | intron variant | A/G | snv | 0.35 | 1 | ||
rs3730051 | 1.000 | 0.120 | 19 | 40238790 | intron variant | T/C | snv | 0.24 | 1 | ||
rs8100018 | 1.000 | 0.120 | 19 | 40246116 | intron variant | C/A;G | snv | 1 | |||
rs10407022 | 0.882 | 0.200 | 19 | 2249478 | missense variant | G/T | snv | 0.77 | 0.74 | 3 | |
rs2002555 | 1.000 | 0.120 | 12 | 53423453 | upstream gene variant | A/G | snv | 0.16 | 1 | ||
rs4385527 | 0.827 | 0.280 | 9 | 94886305 | intron variant | G/A | snv | 0.31 | 6 | ||
rs10993397 | 1.000 | 0.120 | 9 | 94917489 | intron variant | C/T | snv | 0.33 | 1 | ||
rs3802457 | 1.000 | 0.120 | 9 | 94979054 | intron variant | G/A | snv | 8.5E-02 | 1 | ||
rs7864171 | 1.000 | 0.120 | 9 | 94960984 | intron variant | G/A;C | snv | 1 |