Have questions? Visit https://www.reddit.com/r/SNPedia

rs4671393

From SNPedia

Orientationplus
Stabilizedplus
Make rs4671393(A;A)
Make rs4671393(A;G)
Make rs4671393(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position60493816
GeneBCL11A, LOC100286932
is asnp
is mentioned by
dbSNPrs4671393
ebirs4671393
HLIrs4671393
Exacrs4671393
Varsomers4671393
Maprs4671393
PheGenIrs4671393
hapmaprs4671393
1000 genomesrs4671393
hgdprs4671393
ensemblrs4671393
gopubmedrs4671393
geneviewrs4671393
scholarrs4671393
googlers4671393
pharmgkbrs4671393
gwascentralrs4671393
openSNPrs4671393
23andMers4671393
23andMe allrs4671393
SNP Nexus

SNPshotrs4671393
SNPdbers4671393
MSV3drs4671393
GWAS Ctlgrs4671393
GMAF0.213
Max Magnitude
? (A;A) (A;G) (G;G) 28
OMIM142335
DescFETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5
Variant
Relatedalso
OMIM603903
DescSICKLE CELL ANEMIA
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[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 18695233OA-icon.png] Genetic complexity in sickle cell disease.

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

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

[PMID 22258351] Analysis of rs4671393 polymorphism in hemoglobin E/beta-thalassemia major in Guangxi Province of China.

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