Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908120 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 19 | |
rs147680216 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 11 | |
rs121908119 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 10 | |
rs121908568 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 9 | |||
rs2034604 | 0.776 | 0.160 | 2 | 143201176 | intron variant | C/G;T | snv | 8 | |||
rs35822372 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 8 | |||
rs35956082 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 8 | |||
rs4498834 | 0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 | 8 | ||
rs55846652 | 0.776 | 0.160 | X | 69564858 | downstream gene variant | T/C | snv | 0.29 | 8 | ||
rs758468472 | 0.776 | 0.160 | 17 | 67718094 | splice region variant | G/T | snv | 8 | |||
rs917412 | 0.776 | 0.160 | 4 | 108350621 | TF binding site variant | C/T | snv | 0.21 | 8 | ||
rs730882193 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 6 | |||
rs4904210 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 5 | |
rs929387 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 4 | ||
rs28933971 | 0.882 | 0.080 | 14 | 36662975 | missense variant | G/A;C | snv | 3 | |||
rs374910216 | 0.882 | 0.080 | 2 | 218882358 | missense variant | G/A | snv | 2.4E-05 | 3 | ||
rs377467108 | 0.882 | 0.120 | 7 | 148827254 | missense variant | C/A;T | snv | 6.4E-05 | 3 | ||
rs750190755 | 0.882 | 0.080 | 2 | 218893087 | missense variant | C/T | snv | 4.1E-05 | 7.0E-06 | 3 | |
rs1392844787 | 0.925 | 0.080 | 19 | 37413765 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs34165410 | 0.925 | 0.080 | 4 | 4860247 | synonymous variant | C/G;T | snv | 4.8E-06; 6.8E-02 | 2 | ||
rs374534090 | 0.925 | 0.080 | 14 | 36663506 | missense variant | G/A;C;T | snv | 4.2E-06; 4.2E-06 | 2 | ||
rs515726227 | 0.925 | 0.080 | 4 | 4863139 | frameshift variant | -/TA | delins | 2 | |||
rs7143727 | 0.925 | 0.080 | 14 | 36666400 | non coding transcript exon variant | G/C | snv | 4.7E-02 | 2 | ||
rs752881223 | 0.925 | 0.080 | 17 | 65558307 | missense variant | A/C;G | snv | 2 | |||
rs754287422 | 0.925 | 0.080 | 14 | 36663308 | missense variant | A/G | snv | 2 |