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rs33952266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GC;GC) 0 common in clinvar
Make rs33952266(A;A)
Make rs33952266(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225727
GeneHBB
is asnp
is mentioned by
dbSNPrs33952266
ebirs33952266
HLIrs33952266
Exacrs33952266
Varsomers33952266
Maprs33952266
PheGenIrs33952266
hapmaprs33952266
1000 genomesrs33952266
hgdprs33952266
ensemblrs33952266
gopubmedrs33952266
geneviewrs33952266
scholarrs33952266
googlers33952266
pharmgkbrs33952266
gwascentralrs33952266
openSNPrs33952266
23andMers33952266
23andMe allrs33952266
SNP Nexus

SNPshotrs33952266
SNPdbers33952266
MSV3drs33952266
GWAS Ctlgrs33952266
Max Magnitude0
OMIM141900
Desc
Variant0423
Relatedalso
OMIM141900
Desc
Variant0454
Relatedalso
ClinVar
Risk rs33952266(A,C,T;A,C,T)
Alt rs33952266(A,C,T;A,C,T)
Reference rs33952266(G;G)
Significance Untested
Disease
Variation info
Gene HBB
CLNDBN
Reversed 1
HGVS NC_000011.9:g.5246957C>A; NC_000011.9:g.5246957C>G; NC_000011.9:g.5246957C>T
CLNSRC GTR HBVAR
CLNACC



[PMID 7558878] A newly discovered beta O-thalassemia (IVS-II-850, G-->A) mutation in a north European family.


[PMID 1398296] A new mutation in the beta-globin gene (IVS II-850 G-C) found in a Yugoslavian beta-thalassemia heterozygote.


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