RESULT OF MUTATION
Total records: 1 Records
Record No:1
| ACCESS NO | 300507 |
| GENE_NAME | ORMDL3 |
| dbSNP_ID | rs4065275 |
| CHANGES | A/G/T |
| ANCESTRAL_ALLELES | A |
| FUNCTIONAL_CONSEQUENCES | Intron Variant |
| DISEASE | Asthma |
| POPULATION | - |
| PMID | 27848966 |
| COMMENTS | The asthma-risk variants rs4065275 and rs12936231 switched CTCF-binding sites in the 17q21 locus and 4C-Seq assays showed that several distal cis-regulatory elements upstream of the disrupted ZPBP2 CTCF-binding site interacted with the ORMDL3 promoter region in CD4+ T cells exclusively from subjects carrying asthma-risk alleles. |