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rs34999973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34999973(C;T)
Make rs34999973(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227161
GeneHBB
is asnp
is mentioned by
dbSNPrs34999973
ebirs34999973
HLIrs34999973
Exacrs34999973
Varsomers34999973
Maprs34999973
PheGenIrs34999973
hapmaprs34999973
1000 genomesrs34999973
hgdprs34999973
ensemblrs34999973
gopubmedrs34999973
geneviewrs34999973
scholarrs34999973
googlers34999973
pharmgkbrs34999973
gwascentralrs34999973
openSNPrs34999973
23andMers34999973
23andMe allrs34999973
SNP Nexus

SNPshotrs34999973
SNPdbers34999973
MSV3drs34999973
GWAS Ctlgrs34999973
Max Magnitude0
OMIM141900
Desc
Variant0425
Relatedalso


ClinVar
Risk rs34999973(T;T)
Alt rs34999973(T;T)
Reference rs34999973(C;C)
Significance Pathogenic
Disease Beta-plus-thalassemia beta Thalassemia Beta thalassemia intermedia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia beta Thalassemia Beta thalassemia intermedia
Reversed 1
HGVS NC_000011.9:g.5248391G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016778.26, RCV000029954.3, RCV000202364.1,



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