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rs35724775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs35724775(C;C)
Make rs35724775(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226924
GeneHBB
is asnp
is mentioned by
dbSNPrs35724775
ebirs35724775
HLIrs35724775
Exacrs35724775
Varsomers35724775
Maprs35724775
PheGenIrs35724775
hapmaprs35724775
1000 genomesrs35724775
hgdprs35724775
ensemblrs35724775
gopubmedrs35724775
geneviewrs35724775
scholarrs35724775
googlers35724775
pharmgkbrs35724775
gwascentralrs35724775
openSNPrs35724775
23andMers35724775
23andMe allrs35724775
SNP Nexus

SNPshotrs35724775
SNPdbers35724775
MSV3drs35724775
GWAS Ctlgrs35724775
Max Magnitude0
Beta Thalassemia

https://www.23andme.com/you/journal/beta_thalassemia/techreport/


ClinVar
Risk rs35724775(A,C;A,C)
Alt rs35724775(A,C;A,C)
Reference rs35724775(T;T)
Significance Pathogenic
Disease Beta-plus-thalassemia alpha Thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248154A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016708.26, RCV000020342.1,



[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 6280057] Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.


[PMID 6821648] Studies on the haemopoietic toxicity of nitrous oxide in man.


[PMID 7522523] Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia due to a homozygosity for the IVS-I-6 (T-->C) mutation.


[PMID 8454469] Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations.


[PMID 8518184] The beta + IVS, I-NT no. 6 (T --> C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta.