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rs35256489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35256489(C;C)
Make rs35256489(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5225710
GeneHBB
is asnp
is mentioned by
dbSNPrs35256489
ebirs35256489
HLIrs35256489
Exacrs35256489
Varsomers35256489
Maprs35256489
PheGenIrs35256489
hapmaprs35256489
1000 genomesrs35256489
hgdprs35256489
ensemblrs35256489
gopubmedrs35256489
geneviewrs35256489
scholarrs35256489
googlers35256489
pharmgkbrs35256489
gwascentralrs35256489
openSNPrs35256489
23andMers35256489
23andMe allrs35256489
SNP Nexus

SNPshotrs35256489
SNPdbers35256489
MSV3drs35256489
GWAS Ctlgrs35256489
Max Magnitude0
OMIM141900
Desc
Variant0262
Relatedalso


ClinVar
Risk rs35256489(C;C)
Alt rs35256489(C;C)
Reference rs35256489(T;T)
Significance Other
Disease HEMOGLOBIN SHOWA-YAKUSHIJI Beta-plus-thalassemia Beta-showa-yakushiji thalassemia Beta thalassemia major
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SHOWA-YAKUSHIJI Beta-plus-thalassemia Beta-showa-yakushiji thalassemia Beta thalassemia major
Reversed 1
HGVS NC_000011.9:g.5246940A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016598.2, RCV000016599.26, RCV000016600.26, RCV000029991.1,



[PMID 2822177] A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype.


[PMID 3417300] A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.


[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.


[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.


[PMID 18294253] Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.


[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).


[PMID 2634667] Characterization of beta-thalassemia mutations among the Japanese.