Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 70 | ||
rs1043679457 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 33 | |||
rs113994095 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 31 | |
rs1555817157 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 16 | |||
rs267607161 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 16 | |
rs121918075 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 15 | |||
rs61672878 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 11 | |||
rs121918079 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 10 | |||
rs104894080 | 0.790 | 0.120 | 8 | 74364005 | missense variant | C/T | snv | 3.2E-05 | 4.2E-05 | 9 | |
rs759304648 | 0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 | 9 | |
rs28940291 | 0.776 | 0.080 | 1 | 11992660 | missense variant | G/A | snv | 4.0E-06 | 9 | ||
rs11541796 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 9 | |||
rs79977247 | 0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv | 9 | |||
rs1057518813 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 8 | |||
rs121918090 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 8 | |||
rs104894664 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 6 | |||
rs121918080 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 6 | ||
rs121918095 | 0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 | 6 | |
rs1565942358 | 0.827 | 0.200 | 12 | 32640442 | frameshift variant | -/A | delins | 5 | |||
rs121918074 | 0.851 | 0.120 | 18 | 31595247 | missense variant | C/A | snv | 6.0E-04 | 3.9E-04 | 5 | |
rs1672753 | 0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 | 4 | ||
rs946880677 | 0.882 | 0.080 | 2 | 162224488 | missense variant | T/C | snv | 4 | |||
rs121918088 | 0.851 | 0.120 | 18 | 31598631 | missense variant | T/C | snv | 4 |