Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4966014 | 0.882 | 0.200 | 15 | 98704789 | intron variant | C/G;T | snv | 3 | |||
rs755492182 | 0.882 | 0.080 | 1 | 236735677 | missense variant | C/T | snv | 3 | |||
rs2296545 | 0.851 | 0.160 | 10 | 88583080 | missense variant | C/G;T | snv | 0.46 | 8 | ||
rs387907267 | 0.851 | 0.120 | 11 | 47335120 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 4 | |
rs397516037 | 0.851 | 0.120 | 11 | 47332189 | stop gained | G/A | snv | 8.0E-06 | 4 | ||
rs2074192 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 9 | ||
rs2106809 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 8 | ||
rs1415088003 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 7 | ||
rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 7 | ||
rs397516005 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 5 | |
rs142000963 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 8 | ||
rs121908596 | 0.807 | 0.240 | 15 | 66436837 | missense variant | G/A;T | snv | 7 | |||
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs28935197 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 10 | ||
rs104894503 | 0.776 | 0.160 | 15 | 63060899 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 9 | |
rs2070951 | 0.776 | 0.320 | 4 | 148436862 | splice region variant | G/A;C | snv | 4.2E-06; 0.53 | 9 | ||
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 14 | ||
rs5522 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 19 | |
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs1801252 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 17 | |
rs2073618 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 19 | |
rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 |