Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs138008832 | 1.000 | 5 | 150123142 | missense variant | G/A;T | snv | 1.1E-04; 1.6E-05 | 8 | |||
rs1057518839 | 1.000 | 1 | 161305924 | missense variant | A/C | snv | 4 | ||||
rs564856283 | 12 | 101642495 | missense variant | G/A;C | snv | 3.2E-05 | 3 | ||||
rs4292394 | 4 | 69107231 | synonymous variant | C/G | snv | 0.56 | 0.59 | 2 | |||
rs6600893 | 4 | 69113183 | downstream gene variant | T/C | snv | 0.59 | 2 | ||||
rs6600879 | 4 | 69094669 | intron variant | C/G | snv | 0.58 | 1 | ||||
rs6600880 | 4 | 69094762 | intron variant | T/A | snv | 0.58 | 1 | ||||
rs76732092 | 11 | 18358030 | missense variant | C/A | snv | 1 | |||||
rs900147 | 11 | 13272293 | upstream gene variant | G/A | snv | 0.62 | 1 | ||||
rs146170087 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 7 | |
rs515726205 | 0.882 | 0.040 | 19 | 29702966 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 7 | |
rs786205232 | 0.925 | 0.040 | 1 | 110603893 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs1564282 | 1.000 | 0.040 | 4 | 858525 | intron variant | C/T | snv | 8.1E-02 | 3 | ||
rs281865051 | 1.000 | 0.040 | 12 | 40319998 | missense variant | T/C | snv | 2 | |||
rs35986369 | 1.000 | 0.040 | 3 | 19950975 | frameshift variant | -/GG | delins | 2 | |||
rs74315431 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 15 | ||
rs104894158 | 0.851 | 0.080 | 10 | 62813835 | missense variant | A/T | snv | 5 | |||
rs3810651 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 4 | |||
rs34016896 | 0.925 | 0.080 | 3 | 161275076 | regulatory region variant | C/T | snv | 0.28 | 3 | ||
rs80356727 | 0.925 | 0.080 | 1 | 11022400 | missense variant | C/A | snv | 3 | |||
rs12593813 | 1.000 | 0.080 | 15 | 67744514 | intron variant | A/G | snv | 0.53 | 2 | ||
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs3794087 | 0.851 | 0.120 | 11 | 35308068 | intron variant | G/T | snv | 0.20 | 6 | ||
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 |