BPESC1
blepharophimosis, epicanthus inversus and ptosis candidate 1
Known Variants3 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs187670478 | 3:138,830,641 | G/A | regulatory region variant | — |
| rs75826502 | 3:138,837,253 | G/C | intron variant | — |
| rs940187 | 3:138,841,593 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.