Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 7 | ||
rs80356959 | 0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv | 4 | |||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 10 | ||
rs80357474 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 5 | ||
rs80356936 | 0.851 | 0.200 | 17 | 43104260 | stop gained | A/C;G;T | snv | 4.0E-06 | 3 | ||
rs80357164 | 0.851 | 0.200 | 17 | 43115745 | missense variant | A/C;G;T | snv | 3 | |||
rs41293463 | 0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 | 4 | ||
rs80357086 | 0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv | 4 | |||
rs80356920 | 0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 | 1 | |
rs80357678 | 0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del | 5 | |||
rs397509019 | 0.882 | 0.080 | 17 | 43092674 | frameshift variant | AA/- | delins | 1 | |||
rs886039920 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 1 | |||
rs80357660 | 0.851 | 0.200 | 17 | 43106497 | frameshift variant | C/-;CC | delins | 2 | |||
rs397509205 | 0.882 | 0.080 | 17 | 43070984 | stop gained | C/A | snv | 2 | |||
rs863224765 | 0.851 | 0.200 | 17 | 43051086 | missense variant | C/A;G | snv | 3 | |||
rs748876625 | 0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 | 2 | ||
rs41293459 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 5 | ||
rs80356914 | 0.851 | 0.200 | 17 | 43045759 | stop gained | C/A;G;T | snv | 2 | |||
rs80357112 | 0.882 | 0.080 | 17 | 43051063 | missense variant | C/A;G;T | snv | 2 | |||
rs786202998 | 0.851 | 0.080 | 17 | 43091030 | stop gained | C/A;T | snv | 2 | |||
rs80357307 | 0.851 | 0.200 | 17 | 43045760 | stop gained | C/T | snv | 3 | |||
rs80357090 | 0.882 | 0.200 | 17 | 43097266 | missense variant | C/T | snv | 3.0E-04 | 2.2E-04 | 1 | |
rs80357641 | 0.882 | 0.080 | 17 | 43071164 | frameshift variant | CT/- | delins | 1 | |||
rs80357750 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 2 | |||
rs886040920 | 0.882 | 0.080 | 17 | 43095890 | frameshift variant | G/- | delins | 1 |