Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 117 | |||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 80 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 79 | |||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 73 | ||
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 55 | |||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 42 | |||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 41 | |||
rs1258159645 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 37 | ||
rs2282679 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 36 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 36 | ||
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 32 | ||
rs4759314 | 0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 | 31 | ||
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 27 | ||
rs6214 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 25 | ||
rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs1131691021 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 21 | |||
rs2094258 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 20 | ||
rs505922 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 20 |