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rs33915217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33915217(C;C)
Make rs33915217(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226925
GeneHBB
is asnp
is mentioned by
dbSNPrs33915217
ebirs33915217
HLIrs33915217
Exacrs33915217
Varsomers33915217
Maprs33915217
PheGenIrs33915217
hapmaprs33915217
1000 genomesrs33915217
hgdprs33915217
ensemblrs33915217
gopubmedrs33915217
geneviewrs33915217
scholarrs33915217
googlers33915217
pharmgkbrs33915217
gwascentralrs33915217
openSNPrs33915217
23andMers33915217
23andMe allrs33915217
SNP Nexus

SNPshotrs33915217
SNPdbers33915217
MSV3drs33915217
GWAS Ctlgrs33915217
Max Magnitude0
OMIM141900
Desc
Variant0357
Relatedalso
OMIM141900
Desc
Variant0358
Relatedalso
OMIM141900
Desc
Variant0359
Relatedalso


ClinVar
Risk rs33915217(A,C,T;A,C,T)
Alt rs33915217(A,C,T;A,C,T)
Reference rs33915217(G;G)
Significance Other
Disease Beta-plus-thalassemia Beta thalassemia major alpha Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia Beta thalassemia major alpha Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248155C>A; NC_000011.9:g.5248155C>G; NC_000011.9:g.5248155C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016706.26, RCV000030005.1, RCV000016705.26, RCV000020341.1, RCV000016707.26, RCV000030004.3,



[PMID 2539344] Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron.

[PMID 3021139] Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.

[PMID 3671081OA-icon.png] Expression of a beta thalassemia gene with abnormal splicing.

[PMID 10815781] Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.

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

[PMID 20704537] ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.

[PMID 2439149] A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing.

[PMID 2577233OA-icon.png] The molecular basis of beta thalassaemia in Bulgaria.

[PMID 15278762] Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.


[PMID 1463768] Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.


[PMID 2004023] Sickle cell-beta+ thalassaemia in Orissa State, India.


[PMID 6188062] Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.


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