Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587781262 | 0.882 | 0.240 | X | 107640938 | missense variant | A/G | snv | 6 | |||
rs587781263 | 0.925 | 0.240 | X | 107650000 | missense variant | G/T | snv | 5 | |||
rs3750898 | 10 | 113850156 | missense variant | C/A;G | snv | 4.0E-06; 0.77 | 2 | ||||
rs104894351 | 0.827 | 0.080 | 12 | 119187078 | missense variant | A/C;G | snv | 7 | |||
rs104894345 | 0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv | 6 | |||
rs119103263 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 19 | |||
rs143473232 | 1.000 | 5 | 140679789 | missense variant | G/A;C | snv | 4.0E-06 | 3 | |||
rs12568757 | 1 | 150757317 | intron variant | G/A | snv | 0.42 | 2 | ||||
rs104894619 | 0.827 | 0.120 | 17 | 15231047 | missense variant | G/A | snv | 4.0E-03 | 3.7E-03 | 9 | |
rs879253863 | 0.925 | 0.160 | 4 | 153324126 | missense variant | A/C | snv | 4 | |||
rs3887412 | 16 | 16081173 | intron variant | A/T | snv | 0.25 | 2 | ||||
rs281865128 | 0.882 | 0.080 | 1 | 161306426 | missense variant | C/G;T | snv | 5 | |||
rs17183814 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 7 | |
rs6746030 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 16 | |
rs1474642 | 6 | 170543473 | intron variant | A/G | snv | 0.13 | 2 | ||||
rs6552496 | 4 | 181371930 | intergenic variant | C/A | snv | 0.52 | 2 | ||||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs1418474769 | 1.000 | 0.080 | 1 | 228157761 | start lost | G/T | snv | 3 | |||
rs397515323 | 0.851 | 0.080 | X | 24503479 | missense variant | G/A | snv | 7 | |||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs3811463 | 0.752 | 0.400 | 1 | 26427451 | 3 prime UTR variant | T/A;C | snv | 14 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1801198 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 26 |