Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs28383481 | 1.000 | 0.160 | 5 | 132393688 | missense variant | G/A | snv | 3.2E-03 | 3.4E-03 | 1 | |
| rs386134199 | 1.000 | 0.160 | 5 | 132384290 | missense variant | C/T | snv | 7.2E-04 | 1.8E-04 | 1 | |
| rs121908893 | 1.000 | 0.160 | 5 | 132385435 | stop gained | C/A;T | snv | 5.3E-04; 1.2E-04 | 1 | ||
| rs202088921 | 1.000 | 0.160 | 5 | 132370108 | missense variant | C/G;T | snv | 4.5E-04 | 1 | ||
| rs201082652 | 1.000 | 0.160 | 5 | 132370336 | missense variant | G/A;T | snv | 3.8E-04 | 1 | ||
| rs72552726 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 1 | |
| rs60376624 | 1.000 | 0.160 | 5 | 132392565 | missense variant | C/G | snv | 1.7E-04 | 8.4E-05 | 1 | |
| rs11568520 | 1.000 | 0.160 | 5 | 132370023 | missense variant | C/G | snv | 1.2E-04 | 4.9E-05 | 1 | |
| rs267607054 | 1.000 | 0.160 | 5 | 132390832 | missense variant | C/T | snv | 1.2E-04 | 2.1E-05 | 1 | |
| rs267607052 | 1.000 | 0.160 | 5 | 132370015 | missense variant | G/T | snv | 9.6E-05 | 1 | ||
| rs114269482 | 1.000 | 0.160 | 5 | 132385370 | missense variant | C/T | snv | 9.1E-05 | 1.8E-04 | 1 | |
| rs144547521 | 1.000 | 0.160 | 5 | 132390830 | missense variant | C/T | snv | 8.0E-05 | 6.3E-05 | 1 | |
| rs185551386 | 1.000 | 0.160 | 5 | 132385355 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 1 | |
| rs151231558 | 1.000 | 0.160 | 5 | 132378408 | missense variant | G/A;T | snv | 1.2E-05; 5.6E-05 | 1 | ||
| rs121908889 | 1.000 | 0.160 | 5 | 132384155 | missense variant | G/A | snv | 4.4E-05 | 2.8E-05 | 1 | |
| rs386134194 | 1.000 | 0.160 | 5 | 132378437 | synonymous variant | G/A | snv | 4.4E-05 | 2.8E-05 | 1 | |
| rs121908886 | 1.000 | 0.160 | 5 | 132387044 | stop gained | C/T | snv | 4.0E-05 | 4.9E-05 | 1 | |
| rs775097754 | 1.000 | 0.160 | 5 | 132378362 | intron variant | T/A | snv | 4.0E-05 | 1.4E-05 | 1 | |
| rs777004046 | 1.000 | 0.160 | 5 | 132390688 | splice acceptor variant | A/C;G | snv | 3.6E-05; 4.0E-06 | 1 | ||
| rs72552734 | 1.000 | 0.160 | 5 | 132392519 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 1 | |
| rs72552725 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 1 | |
| rs1321705165 | 1.000 | 0.160 | 5 | 132370363 | stop gained | G/A;T | snv | 1.7E-05 | 7.0E-06 | 1 | |
| rs121908891 | 1.000 | 0.160 | 5 | 132390833 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs386134212 | 1.000 | 0.160 | 5 | 132387065 | stop gained | C/T | snv | 1.6E-05 | 1 | ||
| rs727504159 | 1.000 | 0.160 | 5 | 132370310 | missense variant | G/A | snv | 1.3E-05 | 1 |