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rs34500389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34500389(A;A)
Make rs34500389(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227103
GeneHBB
is asnp
is mentioned by
dbSNPrs34500389
ebirs34500389
HLIrs34500389
Exacrs34500389
Varsomers34500389
Maprs34500389
PheGenIrs34500389
hapmaprs34500389
1000 genomesrs34500389
hgdprs34500389
ensemblrs34500389
gopubmedrs34500389
geneviewrs34500389
scholarrs34500389
googlers34500389
pharmgkbrs34500389
gwascentralrs34500389
openSNPrs34500389
23andMers34500389
23andMe allrs34500389
SNP Nexus

SNPshotrs34500389
SNPdbers34500389
MSV3drs34500389
GWAS Ctlgrs34500389
Max Magnitude0
OMIM141900
Desc
Variant0406
Relatedalso


ClinVar
Risk rs34500389(A,T;A,T)
Alt rs34500389(A,T;A,T)
Reference rs34500389(C;C)
Significance Pathogenic
Disease Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5248333G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016752.26,



[PMID 1729892OA-icon.png] A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient.


[PMID 17486493] Three new beta-globin gene promoter mutations identified through newborn screening.


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