Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 21 | ||
rs369410616 | 0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 | 10 | |
rs2274976 | 0.807 | 0.320 | 1 | 11790870 | missense variant | C/T | snv | 5.6E-02 | 4.2E-02 | 7 | |
rs3768235 | 0.925 | 0.080 | 1 | 85267691 | missense variant | C/T | snv | 8.0E-06; 6.5E-02 | 4.5E-02 | 2 | |
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs1800440 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 29 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs887829 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 18 | ||
rs10012 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 16 | |
rs2070959 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 16 | |
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs63750875 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 15 | ||
rs2072472 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 13 | ||
rs4851527 | 0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 | 7 | ||
rs3218896 | 0.807 | 0.160 | 2 | 102015190 | intron variant | T/C;G | snv | 6 | |||
rs63750111 | 0.882 | 0.200 | 2 | 47800914 | stop gained | C/A;G | snv | 6 | |||
rs1233753551 | 0.851 | 0.160 | 2 | 38074751 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
rs587781462 | 0.882 | 0.200 | 2 | 47800283 | missense variant | C/A;G;T | snv | 1.6E-05 | 4 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 |