Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559193213 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 11 | |||
rs121917984 | 0.790 | 0.080 | 2 | 166052869 | missense variant | G/A;C | snv | 6 | |||
rs794726827 | 0.827 | 0.120 | 2 | 166054637 | splice donor variant | C/A;G;T | snv | 6 | |||
rs794726710 | 0.882 | 0.160 | 2 | 166013812 | stop gained | G/A | snv | 4 | |||
rs121917915 | 1.000 | 0.040 | 2 | 165994176 | missense variant | C/A | snv | 3 | |||
rs121917929 | 0.925 | 0.160 | 2 | 166046970 | missense variant | G/A;T | snv | 3 | |||
rs1553548194 | 1.000 | 0.080 | 2 | 166048938 | inframe deletion | AAT/- | delins | 3 | |||
rs869312670 | 0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del | 3 | |||
rs121918736 | 1.000 | 0.040 | 2 | 166037907 | missense variant | G/A;C | snv | 2 | |||
rs794726825 | 1.000 | 0.040 | 2 | 165996040 | frameshift variant | T/-;TT | delins | 2 | |||
rs886039529 | 1.000 | 0.080 | 2 | 166036051 | frameshift variant | TT/- | delins | 2 | |||
rs121918751 | 1.000 | 0.040 | 2 | 165991841 | missense variant | A/C | snv | 1 | |||
rs1553531385 | 2 | 166012262 | frameshift variant | AATA/- | del | 1 | |||||
rs797045941 | 2 | 166051964 | missense variant | A/G | snv | 1 | |||||
rs121918622 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs121918735 | 1.000 | 0.040 | 2 | 166051906 | missense variant | G/A;T | snv | 3.2E-05 | 2 | ||
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 1 |