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rs33991294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33991294(C;T)
Make rs33991294(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226660
GeneHBB
is asnp
is mentioned by
dbSNPrs33991294
ebirs33991294
HLIrs33991294
Exacrs33991294
Varsomers33991294
Maprs33991294
PheGenIrs33991294
hapmaprs33991294
1000 genomesrs33991294
hgdprs33991294
ensemblrs33991294
gopubmedrs33991294
geneviewrs33991294
scholarrs33991294
googlers33991294
pharmgkbrs33991294
gwascentralrs33991294
openSNPrs33991294
23andMers33991294
23andMe allrs33991294
SNP Nexus

SNPshotrs33991294
SNPdbers33991294
MSV3drs33991294
GWAS Ctlgrs33991294
Max Magnitude0
OMIM141900
Desc
Variant0078
Relatedalso
OMIM141900
Desc
Variant0131
Relatedalso
ClinVar
Risk rs33991294(A,G,T;A,G,T)
Alt rs33991294(A,G,T;A,G,T)
Reference rs33991294(C;C)
Significance Other
Disease HEMOGLOBIN FUKUYAMA HEMOGLOBIN J (IRAN)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN FUKUYAMA HEMOGLOBIN J (IRAN)
Reversed 1
HGVS NC_000011.9:g.5247890G>A; NC_000011.9:g.5247890G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016340.2, RCV000016417.2,


[PMID 3957698] First observation of hemoglobin J-Iran [beta 77 (EF1)His----Asp] in Turkey.


[PMID 6019668OA-icon.png] Abnormal haemoglobins in Iran. Observation of a new variant--haemoglobin J Iran (alpha-2-beta-2 77 His--Asp).


[PMID 1787102] Hb Fukuyama or alpha 2 beta(2)77(EF1)His----Tyr observed in an Indonesian female.


[PMID 1917540] Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].


[PMID 3170240] Hb Fukuyama [beta 77(EF1)His----Tyr]: a new abnormal hemoglobin discovered in a Japanese.


[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.