| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||||
| rs200871174 | 16 | 768475 | missense variant | C/T | snv | 7.8E-04 | 3.6E-04 | 1 | |||
| rs371828253 | 7 | 102273431 | missense variant | C/G | snv | 2.4E-05 | 4.2E-05 | 1 | |||
| rs587776793 | 4 | 54285934 | inframe deletion | CATGATTCGAAC/- | del | 1 | |||||
| rs587776794 | 4 | 54274863 | protein altering variant | -/AGAGGG | delins | 1 | |||||
| rs587776795 | 4 | 54274865 | inframe deletion | GGGTCATTGAATCAA/- | delins | 1 | |||||
| rs587776804 | 4 | 54727418 | inframe deletion | CCATGTATGAAGTAC/- | delins | 1 | |||||
| rs606231209 | 4 | 54274883 | inframe deletion | AGCCCAGATGGACATGAA/- | del | 1 | |||||
| rs75246947 | X | 45746891 | intron variant | T/A | snv | 1 | |||||
| rs756847384 | 11 | 104944794 | missense variant | G/C | snv | 3.2E-05 | 7.0E-06 | 1 | |||
| rs780708976 | 4 | 54727456 | missense variant | T/A;C | snv | 1.6E-05 | 1 | ||||
| rs869025568 | 4 | 54727435 | inframe deletion | TGGAAG/- | delins | 1 | |||||
| rs1058930 | 0.882 | 0.040 | 10 | 95058362 | missense variant | G/A;C | snv | 1.0E-04; 3.7E-02 | 4 | ||
| rs1057519708 | 1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv | 2 | |||
| rs1057520031 | 1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv | 2 | |||
| rs1057520033 | 1.000 | 0.040 | 4 | 54727439 | missense variant | G/C | snv | 2 | |||
| rs121913523 | 1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv | 2 | |||
| rs200375589 | 1.000 | 0.040 | 4 | 54727442 | missense variant | G/A;C;T | snv | 6.0E-05 | 2 | ||
| rs778015444 | 1.000 | 0.040 | 4 | 54274917 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs7909236 | 1.000 | 0.040 | 10 | 95069673 | upstream gene variant | G/T | snv | 0.18 | 2 |