Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338686 | 0.925 | 0.080 | 3 | 15645468 | missense variant | C/A;T | snv | 3.3E-05; 7.5E-05 | 3 | ||
| rs1004027979 | 1.000 | 0.080 | 3 | 15644951 | frameshift variant | -/TC | delins | 2.8E-05 | 1 | ||
| rs1024847163 | 1.000 | 0.080 | 3 | 15641919 | missense variant | T/G | snv | 3.5E-05 | 1 | ||
| rs104893686 | 1.000 | 0.080 | 3 | 15645063 | missense variant | T/G | snv | 1.6E-05 | 1 | ||
| rs104893687 | 1.000 | 0.080 | 3 | 15635614 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs104893688 | 1.000 | 0.080 | 3 | 15645451 | missense variant | C/T | snv | 6.9E-05 | 9.8E-05 | 1 | |
| rs1050035768 | 1.000 | 0.080 | 3 | 15645484 | missense variant | A/T | snv | 4.2E-06 | 2.1E-05 | 1 | |
| rs1057516223 | 1.000 | 0.080 | 3 | 15641969 | frameshift variant | -/CATT | delins | 1 | |||
| rs1057516252 | 1.000 | 0.080 | 3 | 15644985 | stop gained | G/T | snv | 1 | |||
| rs1057516812 | 1.000 | 0.080 | 3 | 15635485 | stop gained | -/A | delins | 1 | |||
| rs1057517225 | 1.000 | 0.080 | 3 | 15645161 | frameshift variant | AG/- | delins | 1 | |||
| rs1057517256 | 1.000 | 0.080 | 3 | 15645024 | frameshift variant | -/TC | delins | 1 | |||
| rs1057517362 | 1.000 | 0.080 | 3 | 15645176 | frameshift variant | G/- | delins | 1 | |||
| rs1157567876 | 1.000 | 0.080 | 3 | 15644751 | missense variant | G/C | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs1190721481 | 1.000 | 0.080 | 3 | 15644626 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
| rs119103232 | 1.000 | 0.080 | 3 | 15635479 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 1 | |
| rs1205964567 | 1.000 | 0.080 | 3 | 15635571 | frameshift variant | -/ATCC | delins | 1 | |||
| rs1277029090 | 1.000 | 0.080 | 3 | 15645316 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs1306944669 | 1.000 | 0.080 | 3 | 15642018 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs13073139 | 1.000 | 0.080 | 3 | 15644367 | missense variant | G/A | snv | 3.3E-04 | 3.8E-04 | 1 | |
| rs13078881 | 1.000 | 0.080 | 3 | 15645186 | missense variant | G/C;T | snv | 3.2E-02 | 1 | ||
| rs1336386457 | 1.000 | 0.080 | 3 | 15642026 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs138818907 | 1.000 | 0.080 | 3 | 15645345 | missense variant | C/T | snv | 2.4E-05 | 1.1E-04 | 1 | |
| rs1404904752 | 1.000 | 0.080 | 3 | 15642001 | frameshift variant | C/- | delins | 4.0E-06 | 1 | ||
| rs146015592 | 1.000 | 0.080 | 3 | 15644326 | missense variant | G/A | snv | 1.1E-04 | 1.5E-04 | 1 |