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rs33913712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33913712(A;A)
Make rs33913712(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226621
GeneHBB
is asnp
is mentioned by
dbSNPrs33913712
ebirs33913712
HLIrs33913712
Exacrs33913712
Varsomers33913712
Maprs33913712
PheGenIrs33913712
hapmaprs33913712
1000 genomesrs33913712
hgdprs33913712
ensemblrs33913712
gopubmedrs33913712
geneviewrs33913712
scholarrs33913712
googlers33913712
pharmgkbrs33913712
gwascentralrs33913712
openSNPrs33913712
23andMers33913712
23andMe allrs33913712
SNP Nexus

SNPshotrs33913712
SNPdbers33913712
MSV3drs33913712
GWAS Ctlgrs33913712
Max Magnitude0
OMIM141900
Desc
Variant0003
Relatedalso
OMIM141900
Desc
Variant0415
Relatedalso
OMIM141900
Desc
Variant0521
Relatedalso
ClinVar
Risk rs33913712(A,T;A,T)
Alt rs33913712(A,T;A,T)
Reference rs33913712(G;G)
Significance Other
Disease beta^0^ Thalassemia HEMOGLOBIN AGENOGI HEMOGLOBIN S (CAMEROON)
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia HEMOGLOBIN AGENOGI HEMOGLOBIN S (CAMEROON)
Reversed 1
HGVS NC_000011.9:g.5247851C>A; NC_000011.9:g.5247851C>T
CLNSRC OMIM Allelic Variant HBVAR
CLNACC RCV000016766.26, RCV000016244.2, RCV000016877.5,


[PMID 2079434] Hb Agenogi [beta 90(F6)Glu----Lys] and beta zero-thalassemia in a Sicilian family.


[PMID 5416123] Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi.


[PMID 5972415] Hemoglobin agenogi (alpha 2 beta 2-90Lys), a slow-moving hemoglobin of a Japanese family resembling Hb-E.


[PMID 9785927] Hemoglobin Agenogi [beta 90 (F6) Glu-->Lys] found in Piedmont. Case report.


[PMID 12144066] Hb Agenogi [P90(F6)Glu-->Lys] in an Argentinean girl.


[PMID 1634368] Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).


[PMID 2310691] Molecular heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations.