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rs33985472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Beta Thalassemia carrier; Hemoglobin beta-plus mutation
(G;G) 4.5 Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms
ReferenceGRCh38 38.1/141
Chromosome11
Position5225485
GeneHBB
is asnp
is mentioned by
dbSNPrs33985472
dbSNP (old)rs33985472
ClinGenrs33985472
ebirs33985472
HLIrs33985472
Exacrs33985472
Varsomers33985472
Maprs33985472
PheGenIrs33985472
Biobankrs33985472
1000 genomesrs33985472
hgdprs33985472
ensemblrs33985472
gopubmedrs33985472
geneviewrs33985472
scholarrs33985472
googlers33985472
pharmgkbrs33985472
gwascentralrs33985472
openSNPrs33985472
23andMers33985472
23andMe allrs33985472
SNP Nexus

SNPshotrs33985472
SNPdbers33985472
MSV3drs33985472
GWAS Ctlgrs33985472
Max Magnitude4.5
OMIM141900
Desc
Variant0383
Relatedalso


ClinVar
Risk Rs33985472(G;G)
Alt Rs33985472(G;G)
Reference Rs33985472(A;A)
Significance Pathogenic
Disease Beta-plus-thalassemia Beta Thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246715T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016731.23, RCV000445642.1,



[PMID 20808897OA-icon.png] Disease-associated mutations that alter the RNA structural ensemble.


[PMID 1705411] Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies.


[PMID 1986379OA-icon.png] Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.