Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4444235 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 23 | ||
rs1057519771 | 1.000 | 0.080 | 9 | 130872201 | missense variant | G/C | snv | 2 | |||
rs137852578 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 10 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs200863613 | 0.925 | 0.080 | 9 | 21971061 | missense variant | C/A;T | snv | 8.5E-05 | 3.7E-04 | 6 | |
rs438034 | 0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 | 4 | ||
rs10009228 | 4 | 40354405 | missense variant | A/G | snv | 0.78 | 0.76 | 1 | |||
rs104893626 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 11 | |||
rs2073778 | 22 | 20087052 | non coding transcript exon variant | C/T | snv | 0.12 | 1 | ||||
rs720012 | 22 | 20111059 | 3 prime UTR variant | G/A | snv | 0.12 | 1 | ||||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
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 | |||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs961150162 | 7 | 55198779 | missense variant | G/A;C | snv | 3 | |||||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs869320694 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 16 | |||
rs557263543 | 8 | 38412508 | 3 prime UTR variant | C/T | snv | 3 | |||||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs3761548 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 42 | |||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs7121 | 0.882 | 0.160 | 20 | 58903752 | missense variant | C/G;T | snv | 0.54 | 6 |