Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs202213518 | 1.000 | 0.040 | 10 | 103197862 | upstream gene variant | AA/-;A;AAA | delins | 1 | |||
rs2307981 | 1.000 | 0.040 | 3 | 12022928 | intron variant | -/ACA | delins | 0.64 | 1 | ||
rs2308169 | 1.000 | 0.040 | 3 | 12045603 | intron variant | ATGCT/-;ATGCTATGCT | delins | 0.63 | 1 | ||
rs34269918 | 1.000 | 0.040 | 1 | 8364925 | intron variant | A/- | delins | 0.69 | 1 | ||
rs34685708 | 1.000 | 0.040 | 2 | 161972220 | intron variant | A/- | delins | 0.38 | 1 | ||
rs58033671 | 1.000 | 0.040 | 8 | 142238758 | intron variant | GCCCGCCCCTGCAC/-;GCCCGCCCCTGCACGCCCGCCCCTGCAC | delins | 1 | |||
rs5825114 | 1.000 | 0.040 | 18 | 55081986 | intergenic variant | A/-;AA | delins | 1 | |||
rs5891007 | 1.000 | 0.040 | 8 | 38163492 | 3 prime UTR variant | -/T | delins | 0.20 | 1 | ||
rs779529169 | 1.000 | 0.040 | 12 | 104289006 | frameshift variant | GA/- | delins | 5.6E-05 | 3.5E-05 | 1 | |
rs869312832 | 1.000 | 0.040 | 16 | 30966051 | frameshift variant | -/C | delins | 1 | |||
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 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 |