Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2074192 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 9 | ||
rs398122917 | 0.882 | 0.080 | X | 155280059 | missense variant | G/C | snv | 4.4E-05 | 1.1E-04 | 5 | |
rs4240157 | 0.925 | 0.080 | X | 15568841 | intron variant | C/T | snv | 4 | |||
rs6632677 | 0.851 | 0.120 | X | 15596749 | intron variant | G/C | snv | 5.0E-03 | 4 | ||
rs4646155 | 0.925 | 0.080 | X | 15579386 | intron variant | C/T | snv | 3.9E-02 | 3 | ||
rs4830542 | 0.925 | 0.080 | X | 15558483 | downstream gene variant | C/G;T | snv | 3 | |||
rs1364685385 | 1.000 | 0.080 | X | 109624828 | missense variant | G/A | snv | 9.3E-06 | 1 | ||
rs133902 | 1.000 | 0.080 | 22 | 25768112 | splice region variant | C/G;T | snv | 8.7E-06; 0.54 | 1 | ||
rs464901 | 1.000 | 0.080 | 22 | 18114735 | non coding transcript exon variant | T/A;C | snv | 1 | |||
rs465276 | 1.000 | 0.080 | 22 | 18117816 | non coding transcript exon variant | G/A | snv | 0.51 | 1 | ||
rs1805127 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 17 | |
rs1805128 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 10 | ||
rs460976 | 0.851 | 0.120 | 21 | 41463567 | downstream gene variant | A/G;T | snv | 7 | |||
rs74315449 | 0.882 | 0.120 | 21 | 34370557 | missense variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 3 | ||
rs113710653 | 0.925 | 0.080 | 21 | 46161921 | missense variant | C/T | snv | 6.5E-02 | 6.1E-02 | 2 | |
rs1805217 | 1.000 | 0.080 | 21 | 9885601 | intergenic variant | G/A;C | snv | 1 | |||
rs1892593 | 1.000 | 0.080 | 21 | 34454062 | intron variant | G/A | snv | 0.44 | 1 | ||
rs2070356 | 1.000 | 0.080 | 21 | 34448789 | 3 prime UTR variant | G/A | snv | 1 | |||
rs2070357 | 1.000 | 0.080 | 21 | 34449121 | 3 prime UTR variant | T/C | snv | 1 | |||
rs2834618 | 1.000 | 0.080 | 21 | 34746814 | intron variant | T/G | snv | 9.5E-02 | 1 | ||
rs758961135 | 1.000 | 0.080 | 21 | 34449456 | missense variant | C/T | snv | 8.0E-06 | 1 | ||
rs8134775 | 1.000 | 0.080 | 21 | 34219525 | intron variant | T/C | snv | 0.29 | 1 | ||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs2866611 | 0.851 | 0.120 | 20 | 41322165 | upstream gene variant | A/T | snv | 0.58 | 16 |