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rs11886868

From SNPedia

Related to blood cell development and referenced in sickle cell and beta-thal research
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11886868(C;T)
Make rs11886868(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position60493111
GeneBCL11A
is asnp
is mentioned by
dbSNPrs11886868
ebirs11886868
HLIrs11886868
Exacrs11886868
Varsomers11886868
Maprs11886868
PheGenIrs11886868
hapmaprs11886868
1000 genomesrs11886868
hgdprs11886868
ensemblrs11886868
gopubmedrs11886868
geneviewrs11886868
scholarrs11886868
googlers11886868
pharmgkbrs11886868
gwascentralrs11886868
openSNPrs11886868
23andMers11886868
23andMe allrs11886868
SNP Nexus

SNPshotrs11886868
SNPdbers11886868
MSV3drs11886868
GWAS Ctlgrs11886868
GMAF0.4963
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM142335
DescFETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5
Variant
Relatedalso
OMIM603903
DescSICKLE CELL ANEMIA
Variant
Relatedalso
OMIM141900
DescHEMOGLOBIN--BETA LOCUS; HBB
Variant
Relatedalso


[PMID 20472475] The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients

GWAS snp
PMID [PMID 18245381OA-icon.png]
Trait Fetal hemoglobin levels
Title Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Risk Allele T
P-val 7E-35
Odds Ratio 0.48 [NR] s.d. decrease in HbF


[PMID 18667698OA-icon.png] DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.


[PMID 20401335OA-icon.png] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.


ClinVar
Risk rs11886868(T;T)
Alt rs11886868(T;T)
Reference rs11886868(C;C)
Significance Probable-Pathogenic
Disease Fetal hemoglobin quantitative trait locus 5
Variation info
Gene BCL11A
CLNDBN Fetal hemoglobin quantitative trait locus 5
Reversed 0
HGVS NC_000002.11:g.60720246C>T
CLNSRC ClinVar
CLNACC RCV000115062.1,



[PMID 25651163] Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia


[PMID 25806420] Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island