Variant "BCL11A:rs10189857"
Search result: 1 record
Variant information
Gene:
BCL11A 
Variant:
BCL11A:rs10189857 
Genomic location:
chr2:60713235(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_022893.3:c.386-17267T>C
protein_coding NM_018014.3:c.386-17267T>C
protein_coding NM_138559.1:c.386-17267T>C
dbSNP ID:
rs10189857  
GWAS trait:
intelligence,self reported educational attainment,mathematical ability,cognitive function measurement 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered fetal hemoglobin (HbF) levels(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered fetal hemoglobin (HbF) levels 
    Evidence:
    P=1.6×10(-7) 
    Effect:
    Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%.
    Reference:
    PMID21057501
    Title:
    Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
    Species studied:
    Human
    Abstract:
    We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production.