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rs33910569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33910569(A;C)
Make rs33910569(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225659
GeneHBB
is asnp
is mentioned by
dbSNPrs33910569
ebirs33910569
HLIrs33910569
Exacrs33910569
Varsomers33910569
Maprs33910569
PheGenIrs33910569
hapmaprs33910569
1000 genomesrs33910569
hgdprs33910569
ensemblrs33910569
gopubmedrs33910569
geneviewrs33910569
scholarrs33910569
googlers33910569
pharmgkbrs33910569
gwascentralrs33910569
openSNPrs33910569
23andMers33910569
23andMe allrs33910569
SNP Nexus

SNPshotrs33910569
SNPdbers33910569
MSV3drs33910569
GWAS Ctlgrs33910569
Max Magnitude0
OMIM141900
Desc
Variant0319
Relatedalso
OMIM141900
Desc
Variant0448
Relatedalso
ClinVar
Risk rs33910569(C,G;C,G)
Alt rs33910569(C,G;C,G)
Reference rs33910569(A;A)
Significance Other
Disease HEMOGLOBIN DIEPPE Beta-Houston-thalassemia Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN DIEPPE Beta-Houston-thalassemia Beta-plus-thalassemia, dominant
Reversed 1
HGVS NC_000011.9:g.5246889T>C; NC_000011.9:g.5246889T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016802.2, RCV000016664.30, RCV000022611.26,


[PMID 1420507] Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.


[PMID 1586746] Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.