Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10053538 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 7 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs10505477 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 19 | ||
rs1051740 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 56 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs10754339 | 0.882 | 0.120 | 1 | 117147650 | 3 prime UTR variant | G/A | snv | 0.88 | 0.76 | 3 | |
rs10877887 | 0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 | 18 | ||
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs11225395 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 11 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs11730582 | 0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 | 10 | ||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 45 | ||
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 14 | |
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 135 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 16 | |||
rs1256054 | 0.882 | 0.120 | 14 | 64249595 | synonymous variant | G/C | snv | 2.8E-03 | 9.6E-04 | 3 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 |