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rs33971440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33971440(A;A)
Make rs33971440(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226929
GeneHBB
is asnp
is mentioned by
dbSNPrs33971440
ebirs33971440
HLIrs33971440
Exacrs33971440
Varsomers33971440
Maprs33971440
PheGenIrs33971440
hapmaprs33971440
1000 genomesrs33971440
hgdprs33971440
ensemblrs33971440
gopubmedrs33971440
geneviewrs33971440
scholarrs33971440
googlers33971440
pharmgkbrs33971440
gwascentralrs33971440
openSNPrs33971440
23andMers33971440
23andMe allrs33971440
SNP Nexus

SNPshotrs33971440
SNPdbers33971440
MSV3drs33971440
GWAS Ctlgrs33971440
GMAF0.0004591
Max Magnitude0
OMIM141900
Desc
Variant0346
Relatedalso
OMIM141900
Desc
Variant0347
Relatedalso


ClinVar
Risk rs33971440(A,T;A,T)
Alt rs33971440(A,T;A,T)
Reference rs33971440(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia beta Thalassemia alpha Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia beta Thalassemia alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248159C>A; NC_000011.9:g.5248159C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016695.26, RCV000169505.1, RCV000016694.26, RCV000020340.1,



[PMID 1390250] The beta-thalassaemia mutations in the population of Cyprus.


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 6280057] Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.


[PMID 8602996] Beta-thalassaemia in south-western Spain: high frequency of G-->A (IVS I-1) mutation.


[PMID 6714226OA-icon.png] Molecular characterization of seven beta-thalassemia mutations in Asian Indians.