Have questions? Visit https://www.reddit.com/r/SNPedia

rs34883338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34883338(C;T)
Make rs34883338(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227163
GeneHBB
is asnp
is mentioned by
dbSNPrs34883338
ebirs34883338
HLIrs34883338
Exacrs34883338
Varsomers34883338
Maprs34883338
PheGenIrs34883338
hapmaprs34883338
1000 genomesrs34883338
hgdprs34883338
ensemblrs34883338
gopubmedrs34883338
geneviewrs34883338
scholarrs34883338
googlers34883338
pharmgkbrs34883338
gwascentralrs34883338
openSNPrs34883338
23andMers34883338
23andMe allrs34883338
SNP Nexus

SNPshotrs34883338
SNPdbers34883338
MSV3drs34883338
GWAS Ctlgrs34883338
Max Magnitude0
OMIM141900
Desc
Variant0371
Relatedalso


ClinVar
Risk rs34883338(T;T)
Alt rs34883338(T;T)
Reference rs34883338(C;C)
Significance Pathogenic
Disease Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5248393G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016720.25,



[PMID 2197725] The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.


[PMID 7794779] A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia.


[PMID 8438884] A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family.