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rs34598529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 3.5 Beta thalassemia
Make rs34598529(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227100
GeneHBB
is asnp
is mentioned by
dbSNPrs34598529
ebirs34598529
HLIrs34598529
Exacrs34598529
Varsomers34598529
Maprs34598529
PheGenIrs34598529
hapmaprs34598529
1000 genomesrs34598529
hgdprs34598529
ensemblrs34598529
gopubmedrs34598529
geneviewrs34598529
scholarrs34598529
googlers34598529
pharmgkbrs34598529
gwascentralrs34598529
openSNPrs34598529
23andMers34598529
23andMe allrs34598529
SNP Nexus

SNPshotrs34598529
SNPdbers34598529
MSV3drs34598529
GWAS Ctlgrs34598529
Max Magnitude3.5
OMIM141900
Desc
Variant0379
Relatedalso


ClinVar
Risk rs34598529(G;G)
Alt rs34598529(G;G)
Reference rs34598529(A;A)
Significance Pathogenic
Disease Beta-plus-thalassemia alpha Thalassemia Beta thalassemia intermedia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia alpha Thalassemia Beta thalassemia intermedia
Reversed 1
HGVS NC_000011.9:g.5248330T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016727.23, RCV000020326.1, RCV000029961.1,



[PMID 1698102] Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant.


[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.


[PMID 2460127] Hb S(C)-beta+-thalassaemia: different mutations are associated with different levels of normal Hb A.


[PMID 3799593] Clinical and molecular correlations in the sickle/beta+-thalassemia syndrome.


[PMID 9401495] Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.


[PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.