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rs766432

From SNPedia

Orientationplus
Stabilizedplus
Make rs766432(A;A)
Make rs766432(A;C)
Make rs766432(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position60492835
GeneBCL11A
is asnp
is mentioned by
dbSNPrs766432
ebirs766432
HLIrs766432
Exacrs766432
Varsomers766432
Maprs766432
PheGenIrs766432
hapmaprs766432
1000 genomesrs766432
hgdprs766432
ensemblrs766432
gopubmedrs766432
geneviewrs766432
scholarrs766432
googlers766432
pharmgkbrs766432
gwascentralrs766432
openSNPrs766432
23andMers766432
23andMe allrs766432
SNP Nexus

SNPshotrs766432
SNPdbers766432
MSV3drs766432
GWAS Ctlgrs766432
GMAF0.2153
Max Magnitude
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 19924444]
Trait Beta thalassemia/hemoglobin E disease
Title A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/hemoglobin E
Risk Allele
P-val 1E-10
Odds Ratio 2.80 [2.04-3.84]


[PMID 20018918OA-icon.png] Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster

GWAS snp
PMID [PMID 20183929]
Trait Beta thalassemia/hemoglobin E disease
Title A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
Risk Allele
P-val 1E-10
Odds Ratio 2.8000 [2.04-3.84]


[PMID 19966804OA-icon.png] Geographical genomics of human leukocyte gene expression variation in southern Morocco.


[PMID 21326311] Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.


[PMID 22686296] The XmnI and BCL11A Single Nucleotide Polymorphisms May Help Predict Hydroxyurea Response in Iranian beta-Thalassemia Patients.


GET Evidence
rs766432
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.78125
summary



GWAS snp
PMID [PMID 23406172OA-icon.png]
Trait Sickle cell anemia (haemolysis)
Title Genetic determinants of haemolysis in sickle cell anaemia.
Risk Allele
P-val 9E-7
Odds Ratio .22 NR unit increase