Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs80356537 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 17 | |||
rs387907281 | 0.752 | 0.280 | 19 | 41970284 | missense variant | C/T | snv | 13 | |||
rs1064797245 | 0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv | 12 | |||
rs398122887 | 0.790 | 0.280 | 19 | 41967744 | missense variant | C/G;T | snv | 8 | |||
rs557052809 | 0.827 | 0.160 | 19 | 41975629 | missense variant | C/A;T | snv | 5 | |||
rs104894897 | 0.882 | 0.160 | X | 30304676 | missense variant | A/C | snv | 4 | |||
rs1345986424 | 0.851 | 0.160 | 1 | 42943291 | stop gained | C/A;T | snv | 4 | |||
rs536681257 | 0.882 | 0.080 | 19 | 41970298 | missense variant | A/C;T | snv | 3 | |||
rs606231436 | 0.882 | 0.080 | 19 | 41970536 | missense variant | A/G | snv | 3 | |||
rs782461379 | 0.882 | 0.120 | 19 | 41988511 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 7.0E-06 | 3 | |
rs28935481 | 0.882 | 0.160 | X | 30304673 | missense variant | T/A;C | snv | 5.4E-06 | 3 | ||
rs1131691564 | 0.925 | 0.160 | X | 30308656 | stop gained | C/T | snv | 2 | |||
rs1324519932 | 0.925 | 0.160 | X | 30308445 | stop gained | C/A;G | snv | 1.3E-05 | 9.5E-06 | 2 | |
rs143141578 | 0.925 | 0.080 | X | 30308764 | missense variant | G/C | snv | 2.3E-04 | 3.9E-04 | 2 | |
rs1555973010 | 0.925 | 0.160 | X | 30308463 | stop gained | G/A | snv | 2 | |||
rs1555973115 | 0.925 | 0.160 | X | 30308812 | frameshift variant | TT/-;T | delins | 2 | |||
rs1555973131 | 0.925 | 0.160 | X | 30308848 | stop gained | C/T | snv | 2 | |||
rs387907373 | 0.925 | 0.080 | X | 30304718 | missense variant | C/A | snv | 2 | |||
rs767828388 | 0.925 | 0.160 | X | 30308836 | stop gained | G/A;C | snv | 6.1E-06 | 2 | ||
rs104894886 | 1.000 | 0.040 | X | 30308257 | stop gained | C/T | snv | 1 | |||
rs104894887 | 1.000 | 0.040 | X | 30308576 | stop gained | A/T | snv | 1 | |||
rs104894888 | 1.000 | 0.040 | X | 30308564 | missense variant | C/G;T | snv | 5.9E-06 | 1 | ||
rs104894889 | 1.000 | 0.040 | X | 30308660 | stop gained | C/T | snv | 1 |