Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1393297693 | 1.000 | 0.040 | 6 | 43178806 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs764328696 | 1.000 | 7 | 35248696 | missense variant | C/G;T | snv | 3 | ||||
rs762642 | 1.000 | 0.040 | 14 | 53956335 | splice region variant | A/C | snv | 0.35 | 2 | ||
rs199715380 | 2 | 130597533 | missense variant | C/T | snv | 2 | |||||
rs387906771 | 1.000 | 0.080 | 8 | 11750166 | missense variant | C/G;T | snv | 2 | |||
rs759067821 | 1.000 | 0.080 | 8 | 11758294 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 2 | |
rs104893900 | 1.000 | 5 | 173233011 | missense variant | G/A | snv | 2 | ||||
rs758277832 | 1.000 | 0.080 | 5 | 173233109 | missense variant | G/C | snv | 2 | |||
rs879253754 | 1.000 | 5 | 173232792 | frameshift variant | T/- | delins | 2 | ||||
rs137852952 | 1.000 | 0.080 | 4 | 166003471 | missense variant | T/C | snv | 2.1E-04 | 2.4E-04 | 2 | |
rs746365549 | 2 | 178782573 | missense variant | C/A;T | snv | 8.0E-06 | 2 | ||||
rs1346496644 | 1 | 85581440 | missense variant | C/G;T | snv | 1 | |||||
rs768000961 | 4 | 121823490 | missense variant | G/A | snv | 8.1E-06 | 1 | ||||
rs2579433 | 2 | 130522115 | missense variant | T/A;C | snv | 1 | |||||
rs753669213 | 2 | 74498109 | missense variant | T/C | snv | 1.7E-04 | 1.8E-04 | 1 | |||
rs1345146178 | 5 | 173233003 | stop gained | G/A | snv | 1 | |||||
rs1390448535 | 7 | 151007245 | missense variant | C/G | snv | 4.2E-06 | 1 | ||||
rs111862418 | 7 | 35204548 | missense variant | A/C;T | snv | 1 | |||||
rs483352999 | 7 | 35202590 | missense variant | A/C | snv | 1 | |||||
rs147405081 | 12 | 114366360 | missense variant | C/T | snv | 1.2E-03 | 4.1E-03 | 1 | |||
rs375349466 | 4 | 166003545 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 1 |