Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7526425 | 1 | 211527316 | regulatory region variant | G/A | snv | 1 | |||||
rs7735940 | 5 | 36423829 | regulatory region variant | G/T | snv | 0.65 | 1 | ||||
rs834576 | 6 | 44238042 | downstream gene variant | C/A | snv | 0.16 | 1 | ||||
rs9375459 | 6 | 126826559 | intron variant | C/T | snv | 0.39 | 1 | ||||
rs9381299 | 6 | 44244130 | upstream gene variant | T/C | snv | 0.15 | 1 | ||||
rs9899362 | 17 | 10977893 | intergenic variant | A/G;T | snv | 1 | |||||
rs9913883 | 17 | 10980479 | intergenic variant | G/A | snv | 0.12 | 1 | ||||
rs17327624 | 7 | 87587501 | intron variant | G/A;T | snv | 1 | |||||
rs4148734 | 7 | 87564281 | intron variant | G/A | snv | 0.22 | 1 | ||||
rs1156835126 | 17 | 63477230 | missense variant | G/A | snv | 4.2E-05 | 1 | ||||
rs4305 | 17 | 63480868 | intron variant | A/G | snv | 0.45 | 1 | ||||
rs553520266 | 17 | 63479853 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 1 | |||
rs746566272 | 17 | 63484889 | missense variant | G/A | snv | 3.3E-05 | 7.0E-06 | 1 | |||
rs755506668 | 17 | 63496874 | missense variant | G/A;T | snv | 2.8E-05; 8.0E-06 | 1 | ||||
rs1255327081 | 4 | 2926062 | missense variant | A/G | snv | 4.0E-06 | 1 | ||||
rs16843452 | 4 | 2847441 | intron variant | C/T | snv | 0.16 | 1 | ||||
rs372777117 | 4 | 2898494 | missense variant | A/G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||||
rs1078499 | 1 | 230713350 | intron variant | A/G | snv | 0.30 | 1 | ||||
rs2493132 | 1 | 230707811 | intron variant | T/C;G | snv | 1 | |||||
rs7079 | 1 | 230702585 | 3 prime UTR variant | G/T | snv | 0.25 | 1 | ||||
rs2933249 | 3 | 148698733 | intron variant | G/A | snv | 0.14 | 1 | ||||
rs2238152 | 12 | 111776655 | intron variant | G/T | snv | 0.18 | 1 | ||||
rs2992257 | 10 | 26445658 | intron variant | C/T | snv | 0.20 | 1 | ||||
rs5975126 | X | 129646415 | 3 prime UTR variant | G/A;C | snv | 1 | |||||
rs909656 | X | 129648585 | intron variant | G/A;T | snv | 1.4E-02 | 1 |