Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2301641 | 1.000 | 0.040 | 7 | 20658647 | missense variant | A/G | snv | 0.33 | 0.40 | 1 | |
rs749499406 | 1.000 | 0.040 | 16 | 67658771 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs4785763 | 0.925 | 0.120 | 16 | 90000528 | non coding transcript exon variant | A/C;T | snv | 3 | |||
rs4238833 | 1.000 | 0.040 | 16 | 89984281 | intron variant | G/T | snv | 0.60 | 2 | ||
rs4408545 | 1.000 | 0.040 | 16 | 89977620 | non coding transcript exon variant | C/G;T | snv | 0.40 | 2 | ||
rs11076650 | 1.000 | 0.040 | 16 | 90001533 | non coding transcript exon variant | G/A | snv | 0.49 | 1 | ||
rs11648898 | 1.000 | 0.040 | 16 | 89979578 | non coding transcript exon variant | A/G | snv | 0.17 | 1 | ||
rs4785759 | 1.000 | 0.040 | 16 | 89984472 | intron variant | A/C;G | snv | 1 | |||
rs1636744 | 0.851 | 0.080 | 7 | 16944656 | intron variant | C/T | snv | 0.31 | 4 | ||
rs1800522 | 1.000 | 0.040 | 21 | 44297667 | synonymous variant | T/C | snv | 1 | |||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs1057519804 | 1.000 | 0.040 | 14 | 104776711 | missense variant | G/T | snv | 2 | |||
rs397514644 | 0.925 | 0.040 | 14 | 104780190 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs387906659 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 14 | |||
rs397514606 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 14 | |||
rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
rs137854567 | 0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 | 3 | ||
rs34301344 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 22 | |
rs3803185 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 19 | ||
rs755100942 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 17 | ||
rs1231071385 | 1.000 | 0.040 | 2 | 175093177 | frameshift variant | -/G | ins | 1 | |||
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
rs1800054 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 7 | ||
rs587779826 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 5 | ||
rs781734330 | 0.851 | 0.080 | 1 | 16995981 | missense variant | C/T | snv | 4 |