Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs777843533 | 0.925 | 0.160 | 10 | 79307487 | frameshift variant | -/C | delins | 3 | |||
rs869312678 | 0.925 | 0.160 | 22 | 42209920 | frameshift variant | CA/- | delins | 3 | |||
rs1554904772 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 4 | |||
rs534517447 | 0.925 | 0.160 | 11 | 120956935 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 4 | |
rs766858016 | 0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 | 4 | ||
rs869312699 | 0.925 | 0.160 | 11 | 120986102 | protein altering variant | CTGGCGCAGGAGGCC/GCT | delins | 4 | |||
rs869312686 | 0.882 | 0.120 | X | 153952053 | missense variant | G/C;T | snv | 5 | |||
rs1085308051 | 0.882 | 0.200 | 10 | 87933229 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs869312713 | 0.882 | 0.320 | 16 | 89280070 | stop gained | C/A | snv | 6 | |||
rs878853165 | 0.882 | 0.200 | 19 | 12843558 | missense variant | C/T | snv | 6 | |||
rs869312704 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 10 | |||
rs1554904159 | 0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv | 11 | |||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 14 | |||
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 |