Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs141425171 | 1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 | 3 | ||
rs7174015 | 0.925 | 0.040 | 15 | 50424871 | intron variant | G/A;T | snv | 3 | |||
rs140685149 | 1.000 | 0.080 | 20 | 145670 | frameshift variant | CC/-;C;CCC | delins | 2 | |||
rs144944885 | 1.000 | 0.040 | 22 | 50776482 | intron variant | G/- | delins | 2 | |||
rs1555979575 | 1.000 | 0.040 | X | 106928709 | missense variant | G/C | snv | 2 | |||
rs35397110 | X | 133027131 | missense variant | G/A;T | snv | 3.8E-02 | 2 | ||||
rs374623109 | 1.000 | 0.040 | 11 | 30233753 | stop gained | C/A;T | snv | 1.6E-05 | 2 | ||
rs737008 | 16 | 11281009 | stop gained | G/A;T | snv | 4.0E-06; 0.58 | 2 | ||||
rs777772044 | 1.000 | 0.160 | 1 | 155186160 | missense variant | A/C;G | snv | 1.5E-05 | 2 | ||
rs864309485 | 1.000 | 8 | 30846888 | stop gained | A/C | snv | 2 | ||||
rs1050482 | 2 | 112663757 | 3 prime UTR variant | G/A | snv | 1 | |||||
rs11710967 | 3 | 16598568 | missense variant | T/A;C | snv | 0.11 | 1 | ||||
rs1259503 | 10 | 75232686 | downstream gene variant | C/G;T | snv | 1 | |||||
rs1377547190 | 11 | 36573327 | missense variant | C/T | snv | 1 | |||||
rs1646022 | 16 | 11276073 | intron variant | C/G;T | snv | 0.37 | 1 | ||||
rs2070923 | 16 | 11275998 | intron variant | G/C;T | snv | 4.1E-06; 0.41 | 1 | ||||
rs28368082 | 20 | 57335452 | missense variant | C/T | snv | 5.7E-05 | 1 | ||||
rs372015936 | 2 | 197743089 | missense variant | G/A;C | snv | 4.1E-05; 4.1E-06 | 1 | ||||
rs6124715 | 20 | 45548848 | upstream gene variant | C/G;T | snv | 1 | |||||
rs1161498711 | 7 | 100198492 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs887303970 | 0.776 | 0.280 | 4 | 24799565 | missense variant | C/T | snv | 8.8E-06 | 7.0E-06 | 10 | |
rs952566855 | 11 | 108259068 | missense variant | A/G | snv | 7.0E-06 | 1 | ||||
rs375376464 | 16 | 11276355 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1391383394 | 20 | 32791692 | missense variant | T/C | snv | 7.0E-06 | 1 |