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rs35532010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
Make rs35532010(-;C)
Make rs35532010(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226937
GeneHBB
is asnp
is mentioned by
dbSNPrs35532010
ebirs35532010
HLIrs35532010
Exacrs35532010
Varsomers35532010
Maprs35532010
PheGenIrs35532010
hapmaprs35532010
1000 genomesrs35532010
hgdprs35532010
ensemblrs35532010
gopubmedrs35532010
geneviewrs35532010
scholarrs35532010
googlers35532010
pharmgkbrs35532010
gwascentralrs35532010
openSNPrs35532010
23andMers35532010
23andMe allrs35532010
SNP Nexus

SNPshotrs35532010
SNPdbers35532010
MSV3drs35532010
GWAS Ctlgrs35532010
Max Magnitude0
OMIM141900
Desc
Variant0342
Relatedalso
ClinVar
Risk rs35532010(C;C)
Alt rs35532010(C;C)
Reference rs35532010(;)
Significance Pathogenic
Disease beta^0^ Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248168dupG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016689.26, RCV000169441.1,


[PMID 1850955] A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.


[PMID 2014803OA-icon.png] The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.