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rs35710727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35710727(C;C)
Make rs35710727(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5250055
GeneHBG1
is asnp
is mentioned by
dbSNPrs35710727
ebirs35710727
HLIrs35710727
Exacrs35710727
Varsomers35710727
Maprs35710727
PheGenIrs35710727
hapmaprs35710727
1000 genomesrs35710727
hgdprs35710727
ensemblrs35710727
gopubmedrs35710727
geneviewrs35710727
scholarrs35710727
googlers35710727
pharmgkbrs35710727
gwascentralrs35710727
openSNPrs35710727
23andMers35710727
23andMe allrs35710727
SNP Nexus

SNPshotrs35710727
SNPdbers35710727
MSV3drs35710727
GWAS Ctlgrs35710727
Max Magnitude0
OMIM142200
Desc
Variant0028
Relatedalso


ClinVar
Risk rs35710727(C;C)
Alt rs35710727(C;C)
Reference rs35710727(T;T)
Significance Pathogenic
Disease Fetal hemoglobin quantitative trait locus 1 British HPFH
Variation info
Gene HBG1
CLNDBN Fetal hemoglobin quantitative trait locus 1 British HPFH
Reversed 1
HGVS NC_000011.9:g.5271285A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016174.25, RCV000016175.22,



[PMID 811241] A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes.


[PMID 1373683] An A gamma globin promoter (four base-pair deletion) mutant shows linked polymorphic changes throughout the A gamma gene.


[PMID 2430647] The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene.


[PMID 2458313] Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex.