Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs55819519 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 40 | |
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 37 | |||
rs2853669 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 35 | ||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs3761549 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 18 | ||
rs2302254 | 0.752 | 0.240 | 17 | 51153539 | 5 prime UTR variant | C/T | snv | 0.22 | 15 | ||
rs1927914 | 0.732 | 0.520 | 9 | 117702447 | upstream gene variant | G/A | snv | 0.52 | 14 | ||
rs670 | 0.763 | 0.360 | 11 | 116837697 | 5 prime UTR variant | C/T | snv | 0.17 | 13 | ||
rs16949649 | 0.776 | 0.200 | 17 | 51152947 | upstream gene variant | T/C | snv | 0.39 | 12 | ||
rs1057519855 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 11 | |||
rs1204382931 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 10 | ||
rs391957 | 0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 | 10 | ||
rs1056892 | 0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 | 6 | |
rs3917412 | 1.000 | 0.040 | 1 | 169731361 | intron variant | T/A;C;G | snv | 4 | |||
rs746830376 | 0.925 | 0.200 | 1 | 22784501 | missense variant | G/A | snv | 2.4E-05 | 3.5E-05 | 4 | |
rs747489687 | 0.925 | 0.080 | 8 | 6444626 | frameshift variant | AAGAAATATTGCA/- | delins | 2.3E-04 | 1.0E-04 | 4 | |
rs2830581 | 1.000 | 0.080 | 21 | 26921481 | 3 prime UTR variant | G/A;C | snv | 3 | |||
rs894151 | 1.000 | 0.080 | 8 | 95226180 | intron variant | T/C | snv | 0.39 | 2 |