Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1870134 | 0.827 | 0.120 | 3 | 14178523 | missense variant | G/C;T | snv | 4.2E-02; 8.1E-06 | 5 | ||
rs25490 | 0.851 | 0.120 | 19 | 43552189 | missense variant | T/C | snv | 7.2E-03 | 2.6E-02 | 4 | |
rs1042489 | 0.851 | 0.160 | 17 | 78224125 | 3 prime UTR variant | T/C | snv | 0.40 | 5 | ||
rs1076064 | 0.851 | 0.160 | 5 | 149732603 | intron variant | A/G | snv | 0.47 | 4 | ||
rs6147150 | 0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins | 5 | |||
rs121913396 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 13 | |||
rs12338 | 0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 | 10 | ||
rs748500299 | 0.790 | 0.200 | 1 | 186675960 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 8 | ||
rs10012 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 16 | |
rs1047840 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 19 | |
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs2066827 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 21 | ||
rs2077647 | 0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 | 16 | ||
rs2853669 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 35 | ||
rs3798577 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 16 | ||
rs864745 | 0.763 | 0.320 | 7 | 28140937 | intron variant | T/C | snv | 0.41 | 12 | ||
rs1057520005 | 0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv | 14 | |||
rs16917496 | 0.689 | 0.360 | 12 | 123409283 | 3 prime UTR variant | C/G;T | snv | 21 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs743572 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 24 | ||
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs4143815 | 0.689 | 0.400 | 9 | 5468257 | 3 prime UTR variant | G/C | snv | 0.23 | 20 | ||
rs6259 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 27 | |
rs1800682 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 32 |