Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs137853066 | 0.827 | 0.320 | 1 | 160042339 | missense variant | C/G;T | snv | 8.0E-06 | 6 | ||
| rs137853067 | 1.000 | 0.200 | 1 | 160041938 | stop gained | G/A | snv | 1 | |||
| rs137853068 | 1.000 | 0.200 | 1 | 160042115 | missense variant | A/G | snv | 1 | |||
| rs137853069 | 1.000 | 0.200 | 1 | 160042042 | missense variant | G/A | snv | 1 | |||
| rs137853070 | 1.000 | 0.200 | 1 | 160042033 | missense variant | G/A | snv | 9.6E-06 | 7.0E-06 | 1 | |
| rs137853071 | 1.000 | 0.200 | 1 | 160041644 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs137853072 | 1.000 | 0.200 | 1 | 160042304 | missense variant | C/G | snv | 1 | |||
| rs138943405 | 1.000 | 0.200 | 1 | 160042457 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 1 | |
| rs1557967748 | 1.000 | 0.200 | 1 | 160041758 | frameshift variant | C/- | delins | 1 | |||
| rs387906834 | 1.000 | 0.200 | 1 | 160042340 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs757159382 | 1.000 | 0.200 | 1 | 160042308 | missense variant | A/C;G | snv | 4.4E-05 | 1 |