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rs33930702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33930702(A;A)
Make rs33930702(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227019
GeneHBB
is asnp
is mentioned by
dbSNPrs33930702
ebirs33930702
HLIrs33930702
Exacrs33930702
Varsomers33930702
Maprs33930702
PheGenIrs33930702
hapmaprs33930702
1000 genomesrs33930702
hgdprs33930702
ensemblrs33930702
gopubmedrs33930702
geneviewrs33930702
scholarrs33930702
googlers33930702
pharmgkbrs33930702
gwascentralrs33930702
openSNPrs33930702
23andMers33930702
23andMe allrs33930702
SNP Nexus

SNPshotrs33930702
SNPdbers33930702
MSV3drs33930702
GWAS Ctlgrs33930702
Max Magnitude0
OMIM141900
Desc
Variant0430
Relatedalso
ClinVar
Risk rs33930702(A,C,T;A,C,T)
Alt rs33930702(A,C,T;A,C,T)
Reference rs33930702(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248249C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016783.26,


[PMID 1301952] A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.


[PMID 7864023] Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.


[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.


[PMID 8718703] Molecular analyses of beta-thalassemia in Iran.