Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs1057520009 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 14 | ||
rs724159947 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 6 | |||
rs1239105602 | 1.000 | 0.160 | 10 | 87864168 | 5 prime UTR variant | C/T | snv | 2 | |||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs724159946 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 3 | |||
rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 25 | |||
rs78245253 | 1.000 | 3 | 128485850 | missense variant | G/A;C | snv | 4.0E-06; 5.0E-03 | 2 | |||
rs121913506 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 24 | |||
rs121918453 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 19 | |||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs3745274 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 30 | ||
rs770692189 | 1.000 | 0.120 | 2 | 111123957 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs11536889 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 27 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs397507514 | 0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv | 10 | |||
rs1057519766 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 5 | |||
rs917927904 | 1.000 | 0.160 | 10 | 87864242 | 5 prime UTR variant | G/T | snv | 7.0E-06 | 2 | ||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs767464424 | 0.925 | 0.080 | 2 | 37222420 | frameshift variant | T/- | delins | 4.2E-06 | 3 | ||
rs5743551 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 12 | |||
rs267606706 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 9 | ||
rs757874631 | 0.882 | 0.120 | 11 | 119278211 | missense variant | T/A;C | snv | 4 |