Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554087949 | 1.000 | 0.160 | 5 | 132389022 | splice donor variant | G/T | snv | 1 | |||
| rs1554088165 | 1.000 | 0.160 | 5 | 132390809 | stop gained | G/A | snv | 1 | |||
| rs1554088200 | 1.000 | 0.160 | 5 | 132390905 | splice donor variant | G/A | snv | 1 | |||
| rs1561566541 | 1.000 | 0.160 | 5 | 132378237 | splice donor variant | T/C | snv | 1 | |||
| rs185551386 | 1.000 | 0.160 | 5 | 132385355 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 1 | |
| rs201082652 | 1.000 | 0.160 | 5 | 132370336 | missense variant | G/A;T | snv | 3.8E-04 | 1 | ||
| rs202088921 | 1.000 | 0.160 | 5 | 132370108 | missense variant | C/G;T | snv | 4.5E-04 | 1 | ||
| rs267607052 | 1.000 | 0.160 | 5 | 132370015 | missense variant | G/T | snv | 9.6E-05 | 1 | ||
| rs267607054 | 1.000 | 0.160 | 5 | 132390832 | missense variant | C/T | snv | 1.2E-04 | 2.1E-05 | 1 | |
| rs28383481 | 1.000 | 0.160 | 5 | 132393688 | missense variant | G/A | snv | 3.2E-03 | 3.4E-03 | 1 | |
| rs386134194 | 1.000 | 0.160 | 5 | 132378437 | synonymous variant | G/A | snv | 4.4E-05 | 2.8E-05 | 1 | |
| rs386134199 | 1.000 | 0.160 | 5 | 132384290 | missense variant | C/T | snv | 7.2E-04 | 1.8E-04 | 1 | |
| rs386134200 | 1.000 | 0.160 | 5 | 132384302 | splice donor variant | G/A;T | snv | 1.2E-05 | 1 | ||
| rs386134201 | 1.000 | 0.160 | 5 | 132385326 | splice acceptor variant | A/C | snv | 1 | |||
| rs386134210 | 1.000 | 0.160 | 5 | 132387045 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
| rs386134212 | 1.000 | 0.160 | 5 | 132387065 | stop gained | C/T | snv | 1.6E-05 | 1 | ||
| rs386134218 | 1.000 | 0.160 | 5 | 132392505 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs386134221 | 1.000 | 0.160 | 5 | 132392568 | missense variant | C/A;G | snv | 4.0E-06; 8.0E-06 | 1 | ||
| rs386134223 | 1.000 | 0.160 | 5 | 132392577 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs386134224 | 1.000 | 0.160 | 5 | 132393675 | splice acceptor variant | G/A | snv | 1 | |||
| rs60376624 | 1.000 | 0.160 | 5 | 132392565 | missense variant | C/G | snv | 1.7E-04 | 8.4E-05 | 1 | |
| rs68018207 | 1.000 | 0.160 | 5 | 132389020 | stop lost | T/C | snv | 1 | |||
| rs72552722 | 1.000 | 0.160 | 5 | 132369984 | stop gained | C/G | snv | 8.0E-06 | 1 | ||
| rs72552725 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 1 | |
| rs72552726 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 1 |