Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 48 | ||
rs1927911 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 28 | ||
rs11536889 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 27 | ||
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 24 | ||
rs776746 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 21 | ||
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs4135385 | 0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 | 14 | ||
rs1801265 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 13 | ||
rs4969170 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 11 | ||
rs34743033 | 0.776 | 0.200 | 18 | 657657 | 5 prime UTR variant | GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG | delins | 8 | |||
rs371194629 | 0.790 | 0.320 | 6 | 29830804 | 3 prime UTR variant | -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT | ins | 8 | |||
rs4124874 | 0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv | 8 | |||
rs6790 | 0.790 | 0.320 | 1 | 173865494 | non coding transcript exon variant | G/A | snv | 8.9E-02 | 7 | ||
rs879255237 | 0.807 | 0.160 | 1 | 150077763 | missense variant | C/A | snv | 7 | |||
rs387906717 | 0.827 | 0.120 | X | 48688403 | missense variant | T/C | snv | 6 | |||
rs4533622 | 0.807 | 0.240 | 3 | 41200847 | intron variant | C/A;T | snv | 6 | |||
rs2032592 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 5 | ||
rs104893624 | 0.851 | 0.200 | 2 | 136114928 | stop gained | G/A | snv | 4 | |||
rs149104283 | 0.882 | 0.040 | 12 | 20930928 | intron variant | C/G;T | snv | 4 | |||
rs2305482 | 0.851 | 0.200 | 17 | 39984674 | intron variant | A/C | snv | 0.57 | 4 | ||
rs2916733 | 0.851 | 0.120 | 8 | 6465757 | intron variant | G/A | snv | 0.28 | 4 | ||
rs4240803 | 0.851 | 0.240 | 16 | 87855597 | intron variant | G/A;C;T | snv | 4 |