Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 29 | |||
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 24 | ||
rs763361 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 21 | ||
rs2227284 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 12 | |||
rs560191 | 0.763 | 0.280 | 15 | 43475576 | missense variant | G/C;T | snv | 0.36; 4.0E-06 | 12 | ||
rs7025417 | 0.752 | 0.280 | 9 | 6240084 | intron variant | T/C;G | snv | 11 | |||
rs1417938 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 10 | ||
rs3838646 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 8 | |||
rs1059702 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 7 | ||
rs2900180 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 5 | |||
rs17435 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 4 | |||
rs540386 | 0.851 | 0.200 | 11 | 36503743 | intron variant | C/G;T | snv | 4 | |||
rs2162440 | 1.000 | 0.160 | 18 | 37634043 | intron variant | A/G;T | snv | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs143101792 | 0.851 | 0.320 | 1 | 159714026 | stop gained | G/C | snv | 8.8E-05 | 1.3E-04 | 5 | |
rs3218625 | 0.925 | 0.240 | 1 | 186674409 | missense variant | C/T | snv | 1.6E-03 | 5.0E-04 | 2 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs374039502 | 0.925 | 0.160 | 13 | 108308037 | 3 prime UTR variant | T/A | snv | 2.0E-02 | 4 |