Annotation Detail
Information
- Associated Genes
- HBS1L
- Associated Variants
-
BCL11A c.386-22075A>C
(
ENST00000359629.10,
ENST00000489516.7,
ENST00000642384.2,
ENST00000642439.1,
ENST00000646249.1,
ENST00000335712.11,
ENST00000356842.9,
ENST00000358510.6 )
rs6934903
BCL11A c.386-22075A>C ( ENST00000335712.11, ENST00000356842.9, ENST00000358510.6, ENST00000359629.10, ENST00000489516.7, ENST00000642384.2, ENST00000642439.1, ENST00000646249.1 )
rs6934903 - Associated Disease
- Sickle Cell Trait
- Source Database
- DisGeNET
- Description
- The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine the association of genetic variants at the BCL11A (rs1427407) and HBS1-MYB (rs6934903) loci with fetal hemoglobin levels (HbF).
- Pubmed
- 25457385
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs