Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057520529 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 5 | |||
rs122467169 | 1.000 | 0.200 | X | 49251698 | missense variant | A/C | snv | 1 | |||
rs122467170 | 1.000 | 0.200 | X | 49251480 | missense variant | C/T | snv | 1 | |||
rs122467171 | 1.000 | 0.200 | X | 49255492 | inframe deletion | CCT/- | delins | 1 | |||
rs122467172 | 1.000 | 0.200 | X | 49251692 | missense variant | AA/GC | mnv | 1 | |||
rs122467173 | 1.000 | 0.200 | X | 49253200 | missense variant | A/G | snv | 1 | |||
rs122467174 | 1.000 | 0.200 | X | 49258503 | start lost | C/T | snv | 1 | |||
rs122467175 | 1.000 | 0.200 | X | 49251711 | missense variant | A/G | snv | 1 | |||
rs1557115532 | 1.000 | 0.200 | X | 49251408 | missense variant | C/T | snv | 1 | |||
rs1569529565 | 1.000 | 0.200 | X | 49251358 | frameshift variant | ACA/G | delins | 1 | |||
rs1569529715 | 1.000 | 0.200 | X | 49255756 | missense variant | A/C | snv | 1 | |||
rs200554980 | 1.000 | 0.200 | X | 49257541 | missense variant | G/A | snv | 2.6E-04 | 2.3E-04 | 1 | |
rs28935477 | 1.000 | 0.200 | X | 49251441 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 | 1 | |
rs782112916 | 1.000 | 0.200 | X | 49251335 | stop retained variant | C/T | snv | 3.8E-05 | 1 | ||
rs782528935 | 1.000 | 0.200 | X | 49257447 | missense variant | G/A;T | snv | 7.6E-06 | 1 | ||
rs797045588 | 1.000 | 0.200 | X | 49255723 | frameshift variant | C/- | delins | 1 | |||
rs886041596 | 1.000 | 0.200 | X | 49258295 | splice donor variant | C/A;G | snv | 1 | |||
rs886044787 | 1.000 | 0.200 | X | 49253155 | missense variant | G/C | snv | 1 |