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rs713040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs713040(A;G)
Make rs713040(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227013
GeneHBB
is asnp
is mentioned by
dbSNPrs713040
ebirs713040
HLIrs713040
Exacrs713040
Varsomers713040
Maprs713040
PheGenIrs713040
hapmaprs713040
1000 genomesrs713040
hgdprs713040
ensemblrs713040
gopubmedrs713040
geneviewrs713040
scholarrs713040
googlers713040
pharmgkbrs713040
gwascentralrs713040
openSNPrs713040
23andMers713040
23andMe allrs713040
SNP Nexus

SNPshotrs713040
SNPdbers713040
MSV3drs713040
GWAS Ctlgrs713040
GMAF0.2603
Max Magnitude0
OMIM141900
Desc
Variant0206
Relatedalso
ClinVar
Risk rs713040(C,G,T;C,G,T)
Alt rs713040(C,G,T;C,G,T)
Reference rs713040(A;A)
Significance Other
Disease not specified HEMOGLOBIN OKAYAMA
Variation info
Gene HBB
CLNDBN not specified HEMOGLOBIN OKAYAMA
Reversed 0
HGVS NC_000011.9:g.5248243A>G; NC_000011.9:g.5248243A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000173144.1, RCV000016529.2,


[PMID 21333566] The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population. [PMID 6852251] Hemoglobin Okayama [beta 2 (NA 2) His replaced by Gln]: a new 'silent' hemoglobin variant with substituted amino acid residue at the 2,3-diphosphoglycerate binding site.


[PMID 11109504] Falsely increased HbA1c values by HPLC and falsely decreased values by immunoassay lead to identification of Hb Okayama and help in the management of a diabetic patient.