Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10938397 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 19 | ||
rs945270 | 0.925 | 0.040 | 14 | 55733755 | intergenic variant | C/G;T | snv | 3 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs121912703 | 17 | 63496977 | missense variant | C/T | snv | 3.7E-05 | 4.9E-05 | 2 | |||
rs121912678 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 8 | |||
rs587776625 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 12 | |||
rs1800544 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 12 | ||
rs1800035 | 0.925 | 0.080 | 10 | 111078794 | missense variant | C/G;T | snv | 1.9E-03 | 4 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1231783932 | 0.763 | 0.120 | 21 | 26051171 | missense variant | T/A;C | snv | 1.2E-05 | 11 | ||
rs1334791875 | 21 | 25982369 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs1365502141 | 21 | 26000017 | missense variant | G/A | snv | 7.0E-06 | 1 | ||||
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 | |||
rs80356537 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 17 | |||
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 | |||
rs776423109 | 1.000 | 0.120 | 19 | 6718117 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs914655 | 9 | 16208133 | intron variant | G/T | snv | 1.6E-02 | 1 | ||||
rs750257282 | 1.000 | 0.040 | 11 | 3038127 | missense variant | C/G;T | snv | 3.2E-05 | 3 | ||
rs1331851285 | 1.000 | 0.080 | 11 | 105029220 | missense variant | T/C | snv | 1.4E-05 | 2 | ||
rs5742905 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 22 | |||
rs771138120 | 0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 | 13 | ||
rs1060504185 | 9 | 21971116 | missense variant | G/A;C | snv | 1 | |||||
rs202064075 | 1 | 16048352 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 1 |