Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs756847384 | 11 | 104944794 | missense variant | G/C | snv | 3.2E-05 | 7.0E-06 | 1 | |||
rs371828253 | 7 | 102273431 | missense variant | C/G | snv | 2.4E-05 | 4.2E-05 | 1 | |||
rs1057520034 | 4 | 54727447 | missense variant | TT/AA | mnv | 1 | |||||
rs1057520035 | 4 | 54727438 | missense variant | GG/TT | mnv | 1 | |||||
rs1060502521 | 4 | 54733162 | frameshift variant | G/- | del | 1 | |||||
rs1060502543 | 4 | 54727501 | inframe deletion | GAT/- | delins | 1 | |||||
rs121913234 | 4 | 54727414 | splice region variant | AAACCCATGTATGAAGTACAGTGGAAG/- | delins | 1 | |||||
rs1553887262 | 4 | 54695552 | frameshift variant | -/T | ins | 1 | |||||
rs1553887960 | 4 | 54699760 | frameshift variant | TCAG/- | delins | 1 | |||||
rs1560395607 | 4 | 54698334 | frameshift variant | A/- | delins | 1 | |||||
rs1560417385 | 4 | 54727420 | inframe deletion | CCATGTATGAAGTACAGTGGA/- | del | 1 | |||||
rs1560417396 | 4 | 54727421 | protein altering variant | CATGTATG/AA | delins | 1 | |||||
rs1560417427 | 4 | 54727433 | protein altering variant | ACAGTGGA/CC | delins | 1 | |||||
rs1560417438 | 4 | 54727436 | frameshift variant | GTGGAAGGTTGTTGAGGAG/- | del | 1 | |||||
rs1560417535 | 4 | 54727444 | inframe deletion | TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/- | del | 1 | |||||
rs1560417642 | 4 | 54727482 | protein altering variant | -/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA | delins | 1 | |||||
rs1560417666 | 4 | 54727488 | protein altering variant | -/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC | delins | 1 | |||||
rs1560417673 | 4 | 54727489 | inframe insertion | -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT | delins | 1 | |||||
rs1560418178 | 4 | 54727909 | missense variant | G/A | snv | 1 | |||||
rs1560420761 | 4 | 54731338 | frameshift variant | AC/- | del | 1 | |||||
rs587776804 | 4 | 54727418 | inframe deletion | CCATGTATGAAGTAC/- | delins | 1 | |||||
rs780708976 | 4 | 54727456 | missense variant | T/A;C | snv | 1.6E-05 | 1 | ||||
rs869025568 | 4 | 54727435 | inframe deletion | TGGAAG/- | delins | 1 | |||||
rs75246947 | X | 45746891 | intron variant | T/A | snv | 1 | |||||
rs200871174 | 16 | 768475 | missense variant | C/T | snv | 7.8E-04 | 3.6E-04 | 1 |