| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs781734330 | 0.851 | 0.080 | 1 | 16995981 | missense variant | C/T | snv | 4 | |||
| rs12029406 | 0.882 | 0.120 | 1 | 199936700 | intergenic variant | C/T | snv | 0.36 | 3 | ||
| rs529365517 | 0.925 | 0.080 | 1 | 212858540 | missense variant | C/T | snv | 3 | |||
| rs6684439 | 0.925 | 0.080 | 1 | 154423363 | intron variant | C/A;T | snv | 2 | |||
| rs755007339 | 1.000 | 0.040 | 1 | 241098711 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 2 | ||
| rs762807774 | 1.000 | 0.040 | 1 | 1228495 | frameshift variant | CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC | delins | 7.0E-06 | 2 | ||
| rs121913248 | 1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs3219090 | 1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 | 1 | ||
| rs3219125 | 1.000 | 0.040 | 1 | 226367250 | non coding transcript exon variant | T/C | snv | 5.0E-02 | 1 | ||
| rs371344688 | 1.000 | 0.040 | 1 | 156876514 | missense variant | C/G;T | snv | 6.4E-05; 2.4E-05 | 1 | ||
| rs4845622 | 1.000 | 0.040 | 1 | 154438943 | intron variant | A/C | snv | 0.32 | 1 | ||
| rs6673928 | 1.000 | 0.040 | 1 | 206763900 | downstream gene variant | G/T | snv | 0.20 | 1 | ||
| rs6695772 | 1.000 | 0.040 | 1 | 212708597 | intergenic variant | C/G | snv | 0.58 | 1 | ||
| rs7412746 | 1.000 | 0.040 | 1 | 150887995 | intron variant | C/T | snv | 0.41 | 1 | ||
| rs746273282 | 1.000 | 0.040 | 1 | 240806162 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs7513548 | 1.000 | 0.040 | 1 | 6136457 | intron variant | G/A | snv | 0.42 | 1 | ||
| rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
| rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
| rs2227982 | 0.677 | 0.480 | 2 | 241851281 | missense variant | G/A | snv | 9.2E-02 | 4.3E-02 | 24 | |
| rs2234663 | 0.716 | 0.480 | 2 | 113130529 | intron variant | ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC | delins | 14 | |||
| rs2227981 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 12 | ||
| rs1035142 | 0.807 | 0.200 | 2 | 201288355 | 3 prime UTR variant | T/C;G | snv | 0.54 | 7 | ||
| rs12621278 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 7 | ||
| rs13006529 | 0.851 | 0.080 | 2 | 201217736 | missense variant | T/A | snv | 0.41 | 0.42 | 7 | |
| rs10931936 | 0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 | 6 |