Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1321554653 | 1.000 | 0.080 | 17 | 2317980 | frameshift variant | -/G | delins | 1 | |||
rs62635048 | 1.000 | 0.080 | 1 | 197328828 | frameshift variant | -/G | delins | 1 | |||
rs60242496 | 1.000 | 0.080 | 9 | 27572636 | intron variant | -/GGAAAGTGCAGGACCTCCCTCCTG | delins | 1 | |||
rs34424835 | 1.000 | 0.080 | 17 | 44350176 | intron variant | -/GTCA | delins | 0.32 | 1 | ||
rs1356352068 | 1.000 | 0.080 | 16 | 1792196 | frameshift variant | -/T | ins | 1.4E-05 | 1 | ||
rs12608932 | 0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 | 5 | ||
rs387907264 | 0.851 | 0.080 | 17 | 4946742 | missense variant | A/C | snv | 5 | |||
rs1361121 | 1.000 | 0.080 | 6 | 49956357 | downstream gene variant | A/C | snv | 6.3E-02 | 1 | ||
rs7019351 | 1.000 | 0.080 | 9 | 27491264 | intron variant | A/C | snv | 0.67 | 1 | ||
rs7477 | 1.000 | 0.080 | 17 | 16342702 | 3 prime UTR variant | A/C | snv | 0.38 | 1 | ||
rs774351 | 1.000 | 0.080 | 9 | 27516642 | intron variant | A/C | snv | 0.29 | 1 | ||
rs855913 | 1.000 | 0.080 | 7 | 149506571 | intergenic variant | A/C | snv | 0.96 | 1 | ||
rs770237371 | 0.827 | 0.160 | 17 | 81996616 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 5 | ||
rs146528738 | 1.000 | 0.080 | 14 | 20699599 | missense variant | A/C;G | snv | 1.0E-03; 4.0E-06 | 1 | ||
rs752114312 | 1.000 | 0.080 | 16 | 2760410 | missense variant | A/C;G | snv | 8.0E-06; 8.4E-05 | 1 | ||
rs779126582 | 1.000 | 0.080 | 1 | 32033254 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs80265967 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 16 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121912443 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 15 | |||
rs35801418 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 7 | |||
rs80356730 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 7 | ||
rs267606929 | 0.827 | 0.120 | 10 | 13132098 | missense variant | A/G | snv | 5 | |||
rs267607102 | 0.851 | 0.120 | 1 | 11022196 | missense variant | A/G | snv | 5 | |||
rs616147 | 0.827 | 0.080 | 3 | 39492990 | intron variant | A/G | snv | 0.76 | 5 |