Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1340026226 | 1.000 | 0.080 | X | 67711662 | missense variant | G/A | snv | 9.5E-06 | 3 | ||
rs1052667 | 0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs1040411 | 1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 | 3 | ||
rs4946728 | 1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 | 3 | ||
rs3804329 | 1.000 | 0.080 | 6 | 106238552 | intron variant | A/G | snv | 0.15 | 2 | ||
rs2064863 | 0.925 | 0.120 | 20 | 56387716 | intron variant | T/A;C;G | snv | 4 | |||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs4671393 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 11 | |||
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 | |||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 34 | ||
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs121913366 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 12 | |||
rs867748453 | 7 | 140781608 | missense variant | G/A | snv | 1 | |||||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 8 | ||
rs16940 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 5 | |
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs41291957 | 0.882 | 0.200 | 5 | 149428827 | intron variant | G/A | snv | 0.12 | 7 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs1213469537 | 0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs1172398253 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs735482 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 16 |