VAX2
ventral anterior homeobox 2
Summary
This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61275549 | 2:71,127,806 | G/A | — | uncertain significance |
| rs2234496 | 2:71,127,821 | C/G | — | benign |
| rs2466141624 | 2:71,127,824 | T/G | — | likely benign |
| rs782357944 | 2:71,127,866 | G/A | — | uncertain significance |
| rs1032294407 | 2:71,127,897 | C/G | — | uncertain significance |
| rs557635434 | 2:71,128,422 | G/A | — | — |
| rs11674616 | 2:71,132,812 | C/T | intron variant | — |
| rs3771395 | 2:71,133,014 | G/A | intron variant | — |
| rs77276570 | 2:71,133,095 | T/C | intron variant | — |
| rs181158150 | 2:71,133,262 | C/T | intron variant | — |
| rs2466187192 | 2:71,148,269 | C/A | — | uncertain significance |
| rs145801795 | 2:71,148,281 | C/T | — | uncertain significance |
| rs199781570 | 2:71,148,291 | G/A | — | uncertain significance |
| rs145436494 | 2:71,148,326 | C/T | — | uncertain significance |
| rs781991079 | 2:71,148,351 | G/C | — | uncertain significance |
| rs200582274 | 2:71,148,371 | G/A | — | uncertain significance |
| rs869025255 | 2:71,148,378 | C/T | — | likely benign |
| rs375241285 | 2:71,148,407 | G/A | — | uncertain significance |
| rs782124147 | 2:71,159,918 | C/T | — | uncertain significance |
| rs145503713 | 2:71,159,919 | G/A | — | uncertain significance |
| rs1572901154 | 2:71,159,944 | G/C | — | uncertain significance |
| rs202064044 | 2:71,159,963 | C/G | — | uncertain significance |
| rs782501912 | 2:71,159,986 | G/T | — | uncertain significance |
| rs201863357 | 2:71,160,011 | C/T | — | uncertain significance |
| rs782644188 | 2:71,160,020 | G/A | — | uncertain significance |
| rs782811399 | 2:71,160,063 | T/A | — | uncertain significance |
| rs2234498 | 2:71,160,090 | T/C | — | likely benign |
| rs372789757 | 2:71,160,111 | C/T | — | uncertain significance |
| rs1289552116 | 2:71,160,152 | C/G | — | uncertain significance |
| rs376990356 | 2:71,160,153 | C/A | — | uncertain significance |
| rs781925092 | 2:71,160,177 | C/T | — | uncertain significance |
| rs140956448 | 2:71,160,180 | C/T | — | uncertain significance |
| rs149973402 | 2:71,160,203 | G/C | — | likely benign |
| rs782080953 | 2:71,160,237 | C/A | — | uncertain significance |
| rs781910150 | 2:71,160,248 | G/A | — | uncertain significance |
| rs200587085 | 2:71,160,290 | C/T | — | uncertain significance |
| rs782285943 | 2:71,160,323 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.