Source: CLINVAR ×
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs104894259 | 1.000 | 0.120 | 11 | 64805078 | missense variant | A/G;T | snv | 2 | |||
| rs104894261 | 1.000 | 0.120 | 11 | 64804588 | stop gained | G/A | snv | 2 | |||
| rs104894263 | 1.000 | 0.120 | 11 | 64809695 | missense variant | G/C | snv | 2 | |||
| rs104894264 | 1.000 | 0.120 | 11 | 64805132 | missense variant | C/A;G;T | snv | 2 | |||
| rs104894266 | 1.000 | 0.120 | 11 | 64807557 | stop gained | G/A | snv | 2 | |||
| rs104894267 | 1.000 | 0.120 | 11 | 64804789 | stop gained | G/A;T | snv | 7.0E-06 | 2 | ||
| rs1060499974 | 1.000 | 0.120 | 11 | 64805141 | stop gained | G/A | snv | 7.0E-06 | 2 | ||
| rs1060499976 | 1.000 | 0.120 | 11 | 64807178 | splice donor variant | C/A;G;T | snv | 2 | |||
| rs1060503789 | 1.000 | 0.120 | 11 | 64807095 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||
| rs1114167482 | 1.000 | 0.120 | 11 | 64806259 | stop gained | C/T | snv | 2 | |||
| rs1114167486 | 1.000 | 0.120 | 11 | 64809873 | frameshift variant | G/- | delins | 2 | |||
| rs1114167489 | 1.000 | 0.120 | 11 | 64806231 | splice donor variant | C/G;T | snv | 2 | |||
| rs1114167498 | 1.000 | 0.120 | 11 | 64806370 | splice acceptor variant | T/C | snv | 2 | |||
| rs1114167524 | 1.000 | 0.120 | 11 | 64805159 | frameshift variant | -/GGAC | ins | 2 | |||
| rs1114167528 | 1.000 | 0.120 | 11 | 64805103 | missense variant | A/T | snv | 2 | |||
| rs1114167531 | 1.000 | 0.120 | 11 | 64804777 | frameshift variant | -/CTCTCGGC | delins | 2 | |||
| rs1114167536 | 1.000 | 0.120 | 11 | 64804753 | frameshift variant | -/ACGGCTCC | delins | 2 | |||
| rs376872829 | 1.000 | 0.120 | 11 | 64808019 | missense variant | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 2 | ||
| rs386134249 | 1.000 | 0.120 | 11 | 64805122 | missense variant | C/T | snv | 2 | |||
| rs386134250 | 1.000 | 0.120 | 11 | 64810109 | start lost | T/A;C;G | snv | 2 | |||
| rs397515385 | 1.000 | 0.120 | 11 | 64809708 | frameshift variant | G/- | del | 2 | |||
| rs398124435 | 1.000 | 0.120 | 11 | 64805076 | missense variant | C/A | snv | 2 | |||
| rs398124437 | 1.000 | 0.120 | 11 | 64807010 | splice donor variant | C/G;T | snv | 2 | |||
| rs750904332 | 1.000 | 0.120 | 11 | 64806312 | stop gained | G/A;C;T | snv | 4.0E-06 | 2 | ||
| rs767319284 | 1.000 | 0.120 | 11 | 64804621 | frameshift variant | G/-;GG | delins | 2 |