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rs35328027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs35328027(G;G)
Make rs35328027(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225872
GeneHBB
is asnp
is mentioned by
dbSNPrs35328027
ebirs35328027
HLIrs35328027
Exacrs35328027
Varsomers35328027
Maprs35328027
PheGenIrs35328027
hapmaprs35328027
1000 genomesrs35328027
hgdprs35328027
ensemblrs35328027
gopubmedrs35328027
geneviewrs35328027
scholarrs35328027
googlers35328027
pharmgkbrs35328027
gwascentralrs35328027
openSNPrs35328027
23andMers35328027
23andMe allrs35328027
SNP Nexus

SNPshotrs35328027
SNPdbers35328027
MSV3drs35328027
GWAS Ctlgrs35328027
Max Magnitude0
OMIM141900
Desc
Variant0366
Relatedalso


ClinVar
Risk rs35328027(G;G)
Alt rs35328027(G;G)
Reference rs35328027(T;T)
Significance Probable-Pathogenic
Disease Beta thalassemia intermedia
Variation info
Gene HBB
CLNDBN Beta thalassemia intermedia
Reversed 1
HGVS NC_000011.9:g.5247102A>C
CLNSRC ClinVar
CLNACC RCV000029979.1,



[PMID 6280138OA-icon.png] Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.


[PMID 6298782OA-icon.png] Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.


[PMID 20704537] ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.