Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs767095759 | 1.000 | 0.160 | 12 | 48145039 | frameshift variant | C/- | delins | 9.5E-05 | 4.9E-05 | 2 | |
rs202143236 | 1.000 | 0.160 | 12 | 48131394 | splice donor variant | G/A | snv | 1.3E-04; 4.0E-06 | 6.3E-05 | 2 | |
rs1169383137 | 1.000 | 0.160 | 12 | 48135373 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs121918193 | 1.000 | 0.160 | 12 | 48130393 | missense variant | G/A;C;T | snv | 2.0E-05 | 1 | ||
rs121918194 | 1.000 | 0.160 | 12 | 48142041 | missense variant | A/C | snv | 1.6E-05 | 1 | ||
rs121918196 | 1.000 | 0.160 | 12 | 48145096 | missense variant | G/T | snv | 1 | |||
rs746348793 | 1.000 | 0.160 | 12 | 48139913 | splice donor variant | G/A | snv | 8.0E-06 | 1 | ||
rs767265360 | 1.000 | 0.160 | 12 | 48134264 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs121918195 | 1.000 | 0.160 | 12 | 48132913 | stop gained | C/T | snv | 4.0E-06 | 1 |