Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs16999593 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 14 | |
rs17420802 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 2.5E-04 | 2 | ||
rs175080 | 0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 | 9 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800734 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 30 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs188541504 | 0.925 | 0.040 | 19 | 374362 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 3 | |
rs200750564 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs202007462 | 1.000 | 0.040 | 1 | 179342120 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs2075789 | 0.882 | 0.120 | 6 | 31740551 | missense variant | C/T | snv | 0.13 | 9.1E-02 | 6 | |
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs2228611 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 19 | ||
rs2232015 | 1.000 | 0.040 | 1 | 107056636 | upstream gene variant | A/G;T | snv | 1 | |||
rs2274911 | 0.851 | 0.160 | 6 | 116809541 | missense variant | G/A | snv | 0.72 | 0.74 | 6 | |
rs2477686 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 7 | ||
rs2656927 | 1.000 | 0.040 | 19 | 4908263 | intron variant | C/T | snv | 1.0E-01 | 1 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs2973631 | 1.000 | 0.040 | 5 | 23528117 | 3 prime UTR variant | C/T | snv | 0.10 | 1 | ||
rs3197744 | 1.000 | 0.040 | 20 | 1937841 | 3 prime UTR variant | G/T | snv | 0.50 | 1 | ||
rs35576928 | 1.000 | 0.040 | 16 | 11281137 | missense variant | C/A;G | snv | 8.7E-03; 4.0E-06 | 1 | ||
rs373341 | 1.000 | 0.040 | 6 | 42691014 | intron variant | T/C;G | snv | 0.49; 5.2E-05 | 1 | ||
rs3749897 | 1.000 | 0.040 | 6 | 42564364 | missense variant | C/G;T | snv | 0.43 | 1 | ||
rs3791185 | 1.000 | 0.040 | 1 | 107058247 | 3 prime UTR variant | G/A | snv | 0.14 | 1 | ||
rs3819392 | 1.000 | 0.040 | 4 | 54660528 | intron variant | G/A | snv | 0.28 | 2 |