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rs28384513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28384513(A;C)
Make rs28384513(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position135055071
GeneHBS1L
is asnp
is mentioned by
dbSNPrs28384513
ebirs28384513
HLIrs28384513
Exacrs28384513
Varsomers28384513
Maprs28384513
PheGenIrs28384513
hapmaprs28384513
1000 genomesrs28384513
hgdprs28384513
ensemblrs28384513
gopubmedrs28384513
geneviewrs28384513
scholarrs28384513
googlers28384513
pharmgkbrs28384513
gwascentralrs28384513
openSNPrs28384513
23andMers28384513
23andMe allrs28384513
SNP Nexus

SNPshotrs28384513
SNPdbers28384513
MSV3drs28384513
GWAS Ctlgrs28384513
GMAF0.2893
Max Magnitude0

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

ClinVar
Risk rs28384513(C;C)
Alt rs28384513(C;C)
Reference rs28384513(A;A)
Significance Unknown
Disease not provided
Variation info
Gene HBS1L
CLNDBN not provided
Reversed 1
HGVS NC_000006.11:g.135376209T>G
CLNSRC ClinVar
CLNACC RCV000115063.1,



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