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 | |
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
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 | |||
rs768827923 | 0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv | 6 | |||
rs4915076 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 3 | ||
rs4649295 | 0.925 | 0.080 | 1 | 233280792 | intron variant | T/C | snv | 0.60 | 2 | ||
rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
rs732609 | 0.827 | 0.160 | 2 | 1496155 | missense variant | A/C;G | snv | 0.43 | 5 | ||
rs12990503 | 0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 | 2 | ||
rs2048722 | 0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 | 2 | |||
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs371428527 | 0.925 | 3 | 138737869 | missense variant | T/C;G | snv | 1.2E-05 | 1.4E-05 | 2 | ||
rs9858271 | 0.925 | 0.080 | 3 | 59559604 | intron variant | G/A | snv | 0.80 | 2 | ||
rs17739370 | 0.925 | 4 | 177374275 | intergenic variant | C/T | snv | 0.38 | 2 | |||
rs1874564 | 0.925 | 0.080 | 4 | 76936952 | intergenic variant | G/A | snv | 0.58 | 2 | ||
rs7689099 | 0.925 | 4 | 177335759 | missense variant | C/A;G;T | snv | 4.2E-06; 0.11; 1.7E-05 | 2 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs2230641 | 0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 | 8 | |
rs2070593 | 0.827 | 0.120 | 5 | 151028379 | 3 prime UTR variant | G/A;T | snv | 0.20 | 6 | ||
rs3828599 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 5 | ||
rs8177412 | 0.851 | 0.160 | 5 | 151020526 | 5 prime UTR variant | T/C | snv | 0.15 | 5 | ||
rs3805435 | 0.882 | 0.120 | 5 | 151021735 | non coding transcript exon variant | T/C | snv | 8.4E-02 | 3 | ||
rs13184587 | 0.925 | 5 | 78910960 | intron variant | G/A;T | snv | 2 | ||||
rs4946936 | 0.790 | 0.160 | 6 | 108682118 | 3 prime UTR variant | T/A;C | snv | 8 |