Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1356083197 | 1.000 | 0.040 | 1 | 224434068 | missense variant | C/T | snv | 1.5E-05 | 1.4E-05 | 2 | |
rs1374712964 | 1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv | 2 | |||
rs587776946 | 1.000 | 1 | 113114471 | stop gained | C/T | snv | 2 | ||||
rs1261963959 | 1 | 10297069 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 38 | ||
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 37 | |
rs1045485 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 34 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs1057520009 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 14 | ||
rs281864719 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 14 | |||
rs113994087 | 0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv | 12 | |||
rs121912532 | 0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 | 12 | ||
rs863225281 | 0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv | 12 | |||
rs1550117 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 11 | |||
rs4987188 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 11 | ||
rs1057519921 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 10 | |||
rs13010627 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 10 | |
rs13428812 | 0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 | 9 | ||
rs2303426 | 0.790 | 0.080 | 2 | 47403411 | intron variant | C/A;G;T | snv | 1.9E-05; 0.47 | 8 | ||
rs772399455 | 0.851 | 0.080 | 2 | 15942096 | missense variant | G/A;C | snv | 4.0E-06 | 6 | ||
rs121912518 | 0.882 | 0.160 | 2 | 48688064 | missense variant | T/C;G | snv | 5 |