Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386134243 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 16 | ||
rs11575937 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 14 | |||
rs59332535 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 5 | |||
rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
rs267607581 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 4 | |||
rs28933091 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 4 | |||
rs60682848 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 4 | ||
rs267607578 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 3 | ||
rs28933093 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 3 | |||
rs397517889 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs56816490 | 0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv | 3 | |||
rs56984562 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 3 | |||
rs57077886 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 3 | |||
rs59684335 | 0.882 | 0.120 | 1 | 156135280 | frameshift variant | CT/- | delins | 3 | |||
rs60890628 | 0.776 | 0.200 | 1 | 156138507 | missense variant | C/T | snv | 1.5E-04 | 1.0E-04 | 3 | |
rs61195471 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 3 | |||
rs61672878 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 3 | |||
rs730882262 | 0.851 | 0.160 | 1 | 156135293 | missense variant | T/C;G | snv | 3 | |||
rs150840924 | 0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs267607570 | 0.925 | 0.120 | 1 | 156130757 | missense variant | G/A;C | snv | 4.8E-05 | 2 | ||
rs267607571 | 0.882 | 0.160 | 1 | 156134458 | missense variant | G/A;T | snv | 2 | |||
rs28928900 | 0.925 | 0.120 | 1 | 156115096 | missense variant | C/G;T | snv | 2 | |||
rs28933092 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 2 | |||
rs56771886 | 0.925 | 0.160 | 1 | 156135923 | frameshift variant | T/- | delins | 2 | |||
rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 2 |