Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3746609 | 20 | 32434666 | missense variant | G/A | snv | 1.9E-02; 4.4E-06 | 7.4E-03 | 1 | |||
rs228593 | 11 | 108270407 | intron variant | G/A | snv | 0.27 | 1 | ||||
rs893810317 | X | 48793910 | missense variant | C/T | snv | 1 | |||||
rs775743629 | 6 | 162262719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs752492487 | 15 | 40718847 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs12498609 | 4 | 105234028 | missense variant | C/G;T | snv | 6.3E-02; 4.0E-06 | 1 | ||||
rs72661120 | 17 | 7673717 | synonymous variant | T/C | snv | 2.7E-04 | 7.0E-05 | 1 | |||
rs781517199 | 20 | 50082788 | missense variant | C/G | snv | 4.0E-06 | 1 | ||||
rs587779821 | 1.000 | 0.080 | 11 | 108259059 | missense variant | A/G;T | snv | 2 | |||
rs1178981336 | 1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 | 2 | ||
rs142883642 | 1.000 | 0.040 | 2 | 208248486 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 | 2 | |
rs767232094 | 1.000 | 0.040 | 16 | 55484157 | synonymous variant | C/T | snv | 8.0E-06 | 2 | ||
rs193303018 | 1.000 | 0.200 | MT | 3242 | non coding transcript exon variant | G/A | snv | 2 | |||
rs866082104 | 0.925 | 0.120 | X | 75053456 | missense variant | C/T | snv | 3 | |||
rs762622506 | 0.925 | 0.080 | X | 40074459 | missense variant | C/A;T | snv | 6.1E-06 | 3 | ||
rs867679539 | 0.925 | 0.080 | X | 130013883 | missense variant | A/C | snv | 3 | |||
rs1131691041 | 17 | 7676271 | frameshift variant | -/A | delins | 3 | |||||
rs2228529 | 0.925 | 0.080 | 10 | 49459059 | missense variant | T/C | snv | 0.22 | 0.19 | 4 | |
rs751689316 | 0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 | 4 | ||
rs138817062 | 0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 4 | |
rs3835 | 0.882 | 0.120 | 2 | 216201914 | intron variant | G/A | snv | 0.21 | 4 | ||
rs751713049 | 0.851 | 0.200 | 17 | 76736877 | missense variant | G/A;C;T | snv | 6.3E-05; 2.9E-05; 1.2E-04 | 5 | ||
rs267607040 | 0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv | 5 | |||
rs267607042 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 5 | |||
rs4135113 | 0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 | 5 |