Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs13278062 | 0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 8 | |||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs148704956 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 19 | |
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs16906252 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 19 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800449 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 33 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1800566 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 59 | |
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 38 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs187115 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 22 | ||
rs1979277 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 45 | |
rs201745983 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 14 | |
rs2066842 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 15 | ||
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 |