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rs33956879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs33956879(A;A)
Make rs33956879(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226928
GeneHBB
is asnp
is mentioned by
dbSNPrs33956879
ebirs33956879
HLIrs33956879
Exacrs33956879
Varsomers33956879
Maprs33956879
PheGenIrs33956879
hapmaprs33956879
1000 genomesrs33956879
hgdprs33956879
ensemblrs33956879
gopubmedrs33956879
geneviewrs33956879
scholarrs33956879
googlers33956879
pharmgkbrs33956879
gwascentralrs33956879
openSNPrs33956879
23andMers33956879
23andMe allrs33956879
SNP Nexus

SNPshotrs33956879
SNPdbers33956879
MSV3drs33956879
GWAS Ctlgrs33956879
Max Magnitude0
OMIM141900
Desc
Variant0349
Relatedalso
OMIM141900
Desc
Variant0350
Relatedalso
OMIM141900
Desc
Variant0392
Relatedalso


ClinVar
Risk rs33956879(A,C,G;A,C,G)
Alt rs33956879(A,C,G;A,C,G)
Reference rs33956879(T;T)
Significance Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248158A>G
CLNSRC HBVAR
CLNACC RCV000030003.1,



[PMID 2393712] A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from Algeria.

[PMID 2917118] Severe Hb S-beta zero-thalassaemia with a T----C substitution in the donor splice site of the first intron of the beta-globin gene.

[PMID 8037197] An African origin for an "American black" beta zero-thalassemia mutation?

[PMID 14576320OA-icon.png] Intrinsic differences between authentic and cryptic 5' splice sites.

[PMID 15108284] Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

[PMID 20406103] Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutations.


[PMID 3422218] The peculiar spectrum of beta-thalassemia genes in Tunisia.