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 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 169 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 107 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 38 | |||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 26 | |||
rs1057519902 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 13 | |||
rs1553260624 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 13 | |||
rs2235544 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 10 | ||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 7 | |||
rs769809364 | 0.807 | 0.080 | 1 | 3732940 | missense variant | G/A | snv | 8.5E-06 | 1.4E-05 | 7 | |
rs1373481065 | 0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs745542298 | 0.807 | 0.080 | 1 | 3732781 | missense variant | G/A;T | snv | 8.6E-06; 4.3E-06 | 2.1E-05 | 6 | |
rs374052197 | 0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 | 5 | ||
rs745934102 | 0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 5 | |
rs1320938886 | 0.851 | 0.040 | 1 | 169376605 | missense variant | T/G | snv | 4.0E-06 | 4 | ||
rs1249080185 | 0.882 | 0.080 | 1 | 22784698 | missense variant | G/A | snv | 3 | |||
rs751859698 | 0.925 | 0.040 | 1 | 75898031 | missense variant | T/A;C | snv | 1.2E-05 | 2 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 83 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 40 | |||
rs11554137 | 0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 | 13 | |
rs1200941109 | 0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins | 4 | |||
rs63750949 | 0.827 | 0.080 | 2 | 47806213 | missense variant | C/A;T | snv | 4 | |||
rs1346787 | 0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv | 3 |