Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 38 | |||
rs1194338 | 0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv | 3 | |||
rs1196644309 | 1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv | 3 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 47 | ||
rs2333227 | 0.752 | 0.320 | 17 | 58281401 | upstream gene variant | C/T | snv | 0.24 | 15 | ||
rs3130 | 0.882 | 0.080 | 4 | 15968315 | 3 prime UTR variant | T/A;C | snv | 6 | |||
rs3761548 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 42 | |||
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 53 | ||
rs4939827 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 16 | |||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 32 | |||
rs531564 | 0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 | 27 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 83 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 47 | ||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 135 | ||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 20 | ||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs1801270 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 22 |