Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1008459 | 1.000 | 0.080 | 1 | 175182047 | intron variant | T/C | snv | 0.25 | 1 | ||
rs1032968973 | 1.000 | 0.080 | 1 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs1053983726 | 1.000 | 0.080 | 1 | 28150741 | missense variant | C/G | snv | 1 | |||
rs1302121603 | 1.000 | 0.080 | 1 | 176149024 | missense variant | T/C | snv | 3.3E-05 | 7.0E-06 | 1 | |
rs1395271150 | 1.000 | 0.080 | 1 | 247423230 | missense variant | G/C;T | snv | 4.0E-06 | 1 | ||
rs1485665730 | 1.000 | 0.080 | 1 | 113981288 | missense variant | C/G | snv | 4.1E-06 | 1 | ||
rs199505533 | 1.000 | 0.080 | 1 | 153543790 | missense variant | C/A;G | snv | 1.2E-04 | 1 | ||
rs202227574 | 1.000 | 0.080 | 1 | 44011717 | synonymous variant | C/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs2364403 | 1.000 | 0.080 | 1 | 155957961 | intron variant | G/A | snv | 0.25 | 1 | ||
rs3011225 | 1.000 | 0.080 | 1 | 43853701 | intron variant | G/A | snv | 0.60 | 1 | ||
rs62635048 | 1.000 | 0.080 | 1 | 197328828 | frameshift variant | -/G | delins | 1 | |||
rs763783027 | 1.000 | 0.080 | 1 | 228022688 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||
rs765162614 | 1.000 | 0.080 | 1 | 18634498 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs766196255 | 1.000 | 0.080 | 1 | 11022532 | missense variant | A/G | snv | 2.6E-05 | 1.4E-05 | 1 | |
rs768325636 | 1.000 | 0.080 | 1 | 153630614 | synonymous variant | G/A | snv | 7.0E-06 | 1 | ||
rs771480057 | 1.000 | 0.080 | 1 | 239907544 | synonymous variant | G/A | snv | 1.2E-05 | 2.1E-05 | 1 | |
rs771549954 | 1.000 | 0.080 | 1 | 235812976 | missense variant | G/C | snv | 1.2E-05 | 1 | ||
rs779126582 | 1.000 | 0.080 | 1 | 32033254 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs945699 | 1.000 | 0.080 | 1 | 227905618 | regulatory region variant | A/G | snv | 0.41 | 1 | ||
rs957950902 | 1.000 | 0.080 | 1 | 74724729 | synonymous variant | C/T | snv | 4.1E-06 | 2.1E-05 | 1 | |
rs11558538 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 19 | |
rs781587642 | 0.851 | 0.120 | 2 | 219250557 | missense variant | G/A;C | snv | 2.0E-05 | 6 | ||
rs121909345 | 0.882 | 0.120 | 2 | 74363337 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 4 | |
rs535080528 | 0.851 | 0.120 | 2 | 69431903 | splice region variant | T/A;C | snv | 4.0E-06 | 4 | ||
rs121908515 | 0.882 | 0.280 | 2 | 32063962 | stop gained | C/A;T | snv | 4.1E-06; 4.6E-03 | 3 |