Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs796065343 | 0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv | 12 | |||
rs1057519753 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 9 | |||
rs869312953 | 0.851 | 0.120 | 1 | 64846735 | missense variant | G/T | snv | 5 | |||
rs1360698171 | 0.851 | 0.080 | 1 | 182584103 | missense variant | T/C | snv | 4 | |||
rs753000469 | 0.851 | 0.200 | 1 | 212859113 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs2308950 | 0.882 | 0.040 | 1 | 15507011 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-02 | 3 | ||
rs201045130 | 0.925 | 0.040 | 1 | 39659467 | missense variant | A/G | snv | 9.9E-05 | 1.0E-04 | 2 | |
rs147001633 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 15 | ||
rs2228014 | 0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 | 14 | |
rs3116496 | 0.776 | 0.160 | 2 | 203729789 | intron variant | T/C | snv | 0.15 | 0.14 | 11 | |
rs61753793 | 0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 | 4 | |
rs10931910 | 0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv | 2 | |||
rs1444068378 | 1.000 | 0.040 | 2 | 105363404 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs556915505 | 0.851 | 0.080 | 3 | 169143780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs3822214 | 0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 | 13 | ||
rs121913514 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 12 |