Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
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 | 174 | |
rs2284411 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 4 | ||
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
rs6191 | 0.925 | 0.040 | 5 | 143278591 | 3 prime UTR variant | C/A | snv | 0.48 | 4 | ||
rs1057518011 | 1 | 1535766 | missense variant | C/T | snv | 4 | |||||
rs2110267 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 3 | ||
rs61751362 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 14 | ||
rs121912678 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 8 | |||
rs202064075 | 1 | 16048352 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 1 | |||
rs372857241 | 1.000 | 0.080 | 6 | 1610586 | stop gained | C/G;T | snv | 1.8E-05 | 2 | ||
rs1057519475 | 1.000 | 0.080 | 6 | 1610761 | stop gained | C/T | snv | 2 | |||
rs539815495 | 6 | 161973365 | missense variant | A/G | snv | 1.1E-04 | 1.4E-05 | 1 | |||
rs914655 | 9 | 16208133 | intron variant | G/T | snv | 1.6E-02 | 1 | ||||
rs879253767 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 6 | |||
rs875989839 | 1.000 | 6 | 165450242 | missense variant | C/G | snv | 3 | ||||
rs778899140 | 0.925 | 6 | 165450268 | missense variant | T/C | snv | 4.0E-06 | 5 | |||
rs121918626 | 0.925 | 0.080 | 2 | 166012179 | missense variant | T/G | snv | 3 | |||
rs773857 | 19 | 16908042 | intron variant | C/T | snv | 0.56 | 1 | ||||
rs1541665 | 1.000 | 0.040 | 5 | 170715913 | intron variant | C/G;T | snv | 0.21 | 2 |