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rs34690599

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs34690599(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5225832
GeneHBB
is asnp
is mentioned by
dbSNPrs34690599
ebirs34690599
HLIrs34690599
Exacrs34690599
Varsomers34690599
Maprs34690599
PheGenIrs34690599
hapmaprs34690599
1000 genomesrs34690599
hgdprs34690599
ensemblrs34690599
gopubmedrs34690599
geneviewrs34690599
scholarrs34690599
googlers34690599
pharmgkbrs34690599
gwascentralrs34690599
openSNPrs34690599
23andMers34690599
23andMe allrs34690599
SNP Nexus

SNPshotrs34690599
SNPdbers34690599
MSV3drs34690599
GWAS Ctlgrs34690599
Max Magnitude0
Beta Thalassemia

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


ClinVar
Risk rs34690599(G;G)
Alt rs34690599(G;G)
Reference rs34690599(C;C)
Significance Pathogenic
Disease Beta-plus-thalassemia alpha Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia alpha Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247062G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016715.23, RCV000020333.1, RCV000029978.1,



[PMID 1390250] The beta-thalassaemia mutations in the population of Cyprus.

[PMID 1634236] Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population.

[PMID 2298457] Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.

[PMID 3422218] The peculiar spectrum of beta-thalassemia genes in Tunisia.

[PMID 6583702OA-icon.png] beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

[PMID 18603555] Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.


[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.