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rs33994806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs33994806(A;A)
Make rs33994806(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position5227157
GeneHBB
is asnp
is mentioned by
dbSNPrs33994806
ebirs33994806
HLIrs33994806
Exacrs33994806
Varsomers33994806
Maprs33994806
PheGenIrs33994806
hapmaprs33994806
1000 genomesrs33994806
hgdprs33994806
ensemblrs33994806
gopubmedrs33994806
geneviewrs33994806
scholarrs33994806
googlers33994806
pharmgkbrs33994806
gwascentralrs33994806
openSNPrs33994806
23andMers33994806
23andMe allrs33994806
SNP Nexus

SNPshotrs33994806
SNPdbers33994806
MSV3drs33994806
GWAS Ctlgrs33994806
Max Magnitude0
ClinVar
Risk rs33994806(A,G,T;A,G,T)
Alt rs33994806(A,G,T;A,G,T)
Reference rs33994806(C;C)
Significance Pathogenic
Disease beta Thalassemia Beta-plus-thalassemia alpha Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia Beta-plus-thalassemia alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248387G>A; NC_000011.9:g.5248387G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000029949.1, RCV000016723.25, RCV000020323.1, RCV000029948.1,



[PMID 1550780] Promoter mutations producing mild beta-thalassaemia in the Italian population.


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


[PMID 2393018OA-icon.png] The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.