Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35986369 | 1.000 | 0.040 | 3 | 19950975 | frameshift variant | -/GG | delins | 2 | |||
rs1057518839 | 1.000 | 1 | 161305924 | missense variant | A/C | snv | 4 | ||||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs3810651 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 4 | |||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs1052553 | 0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 | 8 | |
rs12593813 | 1.000 | 0.080 | 15 | 67744514 | intron variant | A/G | snv | 0.53 | 2 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs104894158 | 0.851 | 0.080 | 10 | 62813835 | missense variant | A/T | snv | 5 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs869312713 | 0.882 | 0.320 | 16 | 89280070 | stop gained | C/A | snv | 6 | |||
rs80356727 | 0.925 | 0.080 | 1 | 11022400 | missense variant | C/A | snv | 3 | |||
rs76732092 | 11 | 18358030 | missense variant | C/A | snv | 1 | |||||
rs3173615 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 12 | ||
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs80338777 | 0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 | 10 | ||
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs4292394 | 4 | 69107231 | synonymous variant | C/G | snv | 0.56 | 0.59 | 2 | |||
rs6600879 | 4 | 69094669 | intron variant | C/G | snv | 0.58 | 1 | ||||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs397514698 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 52 | |||
rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 | |
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 18 | |||
rs74315431 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 15 |