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rs33982568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(CC;CC) 0 common in clinvar
Make rs33982568(A;A)
Make rs33982568(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226784
GeneHBB
is asnp
is mentioned by
dbSNPrs33982568
ebirs33982568
HLIrs33982568
Exacrs33982568
Varsomers33982568
Maprs33982568
PheGenIrs33982568
hapmaprs33982568
1000 genomesrs33982568
hgdprs33982568
ensemblrs33982568
gopubmedrs33982568
geneviewrs33982568
scholarrs33982568
googlers33982568
pharmgkbrs33982568
gwascentralrs33982568
openSNPrs33982568
23andMers33982568
23andMe allrs33982568
SNP Nexus

SNPshotrs33982568
SNPdbers33982568
MSV3drs33982568
GWAS Ctlgrs33982568
Merged fromRs121909823
Max Magnitude0
OMIM141900
Desc
Variant0318
Relatedalso
ClinVar
Risk rs33982568(A,T;A,T)
Alt rs33982568(A,T;A,T)
Reference rs33982568(C;C)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248014G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016662.26,


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


[PMID 2542242] A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions.