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rs34533941

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
Make rs34533941(-;TG)
Make rs34533941(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226608
GeneHBB
is asnp
is mentioned by
dbSNPrs34533941
ebirs34533941
HLIrs34533941
Exacrs34533941
Varsomers34533941
Maprs34533941
PheGenIrs34533941
hapmaprs34533941
1000 genomesrs34533941
hgdprs34533941
ensemblrs34533941
gopubmedrs34533941
geneviewrs34533941
scholarrs34533941
googlers34533941
pharmgkbrs34533941
gwascentralrs34533941
openSNPrs34533941
23andMers34533941
23andMe allrs34533941
SNP Nexus

SNPshotrs34533941
SNPdbers34533941
MSV3drs34533941
GWAS Ctlgrs34533941
Max Magnitude0
OMIM141900
Desc
Variant0505
Relatedalso


ClinVar
Risk rs34533941(TG;TG)
Alt rs34533941(TG;TG)
Reference rs34533941(;)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247838_5247839insCA
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016685.26,



[PMID 2310835] A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype.