| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1275561861 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 23 | |||
| rs3811647 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 15 | ||
| rs80338880 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 12 | ||
| rs236918 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 10 | |||
| rs199474387 | 0.807 | 0.240 | 6 | 29942870 | missense variant | G/C;T | snv | 6 | |||
| rs1374259518 | 0.882 | 0.080 | 19 | 35284995 | missense variant | T/C | snv | 3 | |||
| rs137852310 | 0.882 | 0.120 | X | 55021095 | missense variant | A/G | snv | 3 | |||
| rs80338881 | 0.925 | 0.080 | 7 | 100632099 | stop gained | G/A | snv | 2 | |||
| rs1168921011 | 1.000 | 0.080 | 1 | 203171152 | missense variant | C/A;T | snv | 1 | |||
| rs1426704853 | 1.000 | 0.080 | 7 | 100641009 | frameshift variant | G/- | delins | 1 | |||
| rs1554154042 | 1.000 | 0.080 | 6 | 26092828 | frameshift variant | A/- | delins | 1 | |||
| rs1562838535 | 1.000 | 0.080 | 7 | 100627598 | frameshift variant | G/- | delins | 1 | |||
| rs749553271 | 1.000 | 0.080 | 6 | 26092960 | stop gained | G/T | snv | 2.1E-05 | 1 | ||
| rs765804978 | 1.000 | 0.080 | 6 | 26091519 | frameshift variant | CC/- | del | 1 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs780246573 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 12 | ||
| rs765166469 | 1.000 | 0.080 | 19 | 9829976 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
| rs773624350 | 1.000 | 0.080 | 6 | 26092887 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
| rs765545512 | 0.827 | 0.240 | 6 | 26093226 | missense variant | G/A;T | snv | 4.0E-06; 1.6E-05 | 6 | ||
| rs121434374 | 0.851 | 0.080 | 1 | 146018395 | stop gained | G/C;T | snv | 1.2E-05; 4.0E-06 | 4 | ||
| rs111033563 | 0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 | 8 | ||
| rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
| rs855791 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 38 | ||
| rs1397742363 | 1.000 | 0.080 | 10 | 30451716 | missense variant | A/G | snv | 4.0E-06 | 1 |