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rs33914668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33914668(A;G)
Make rs33914668(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225728
GeneHBB
is asnp
is mentioned by
dbSNPrs33914668
ebirs33914668
HLIrs33914668
Exacrs33914668
Varsomers33914668
Maprs33914668
PheGenIrs33914668
hapmaprs33914668
1000 genomesrs33914668
hgdprs33914668
ensemblrs33914668
gopubmedrs33914668
geneviewrs33914668
scholarrs33914668
googlers33914668
pharmgkbrs33914668
gwascentralrs33914668
openSNPrs33914668
23andMers33914668
23andMe allrs33914668
SNP Nexus

SNPshotrs33914668
SNPdbers33914668
MSV3drs33914668
GWAS Ctlgrs33914668
GMAF0.0004591
Max Magnitude0
OMIM141900
Desc
Variant0353
Relatedalso
OMIM141900
Desc
Variant0354
Relatedalso


ClinVar
Risk rs33914668(C,G;C,G)
Alt rs33914668(C,G;C,G)
Reference rs33914668(A;A)
Significance Pathogenic
Disease alpha Thalassemia
Variation info
Gene HBB
CLNDBN alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246958T>C; NC_000011.9:g.5246958T>G
CLNSRC HBVAR
CLNACC RCV000020336.1, RCV000020335.1,



[PMID 2424301] The beta zero-thalassemia in an American black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequence.


[PMID 2123063] Compound heterozygosity for a mild beta (+) and a rare beta(0)-thalassemia allele.


[PMID 2987809OA-icon.png] Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.


[PMID 6583702OA-icon.png] beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.