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rs33922842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33922842(C;C)
Make rs33922842(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226762
GeneHBB
is asnp
is mentioned by
dbSNPrs33922842
ebirs33922842
HLIrs33922842
Exacrs33922842
Varsomers33922842
Maprs33922842
PheGenIrs33922842
hapmaprs33922842
1000 genomesrs33922842
hgdprs33922842
ensemblrs33922842
gopubmedrs33922842
geneviewrs33922842
scholarrs33922842
googlers33922842
pharmgkbrs33922842
gwascentralrs33922842
openSNPrs33922842
23andMers33922842
23andMe allrs33922842
SNP Nexus

SNPshotrs33922842
SNPdbers33922842
MSV3drs33922842
GWAS Ctlgrs33922842
Max Magnitude0
OMIM141900
Desc
Variant0113
Relatedalso
OMIM141900
Desc
Variant0316
Relatedalso
ClinVar
Risk rs33922842(A,C,T;A,C,T)
Alt rs33922842(A,C,T;A,C,T)
Reference rs33922842(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia not specified
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia not specified
Reversed 1
HGVS NC_000011.9:g.5247992C>A; NC_000011.9:g.5247992C>G
CLNSRC OMIM Allelic Variant HBVAR
CLNACC RCV000016660.26, RCV000016387.3,


[PMID 701082] Hemoglobin Hoshida (beta43 (cd-2) Glu leads to Gln), a new hemoglobin variant discovered in Japan.


[PMID 1814859] Hb Hoshida [beta 43(CD2)Glu----Gln] observed in a Yugoslavian family.


[PMID 3403716OA-icon.png] New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.