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rs35553496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(AC;AC) 0 common in clinvar
Make rs35553496(A;C)
Make rs35553496(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226630
GeneHBB
is asnp
is mentioned by
dbSNPrs35553496
ebirs35553496
HLIrs35553496
Exacrs35553496
Varsomers35553496
Maprs35553496
PheGenIrs35553496
hapmaprs35553496
1000 genomesrs35553496
hgdprs35553496
ensemblrs35553496
gopubmedrs35553496
geneviewrs35553496
scholarrs35553496
googlers35553496
pharmgkbrs35553496
gwascentralrs35553496
openSNPrs35553496
23andMers35553496
23andMe allrs35553496
SNP Nexus

SNPshotrs35553496
SNPdbers35553496
MSV3drs35553496
GWAS Ctlgrs35553496
Merged fromRs121909825
Max Magnitude0
OMIM141900
Desc
Variant0400
Relatedalso
ClinVar
Risk rs35553496(C;C)
Alt rs35553496(C;C)
Reference rs35553496(A;A)
Significance Other
Disease HEMOGLOBIN VALLETTA beta Thalassemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN VALLETTA beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247860T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016749.2, RCV000029973.1,


[PMID 1709134] The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population.


[PMID 9028827] Hb Valletta [beta 87(F3)Thr-->Pro] due to an A-->C substitution at codon 87 in a Calabrian family with alpha-thalassemia.


[PMID 17145605] Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.


[PMID 21194254] First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia with delta globin CD12 {Asn-->Lys (AAT-->AAA)}HbA(2)-NYU in Iran.