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rs34750035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs34750035(-;-)
Make rs34750035(-;AG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226572
GeneHBB
is asnp
is mentioned by
dbSNPrs34750035
ebirs34750035
HLIrs34750035
Exacrs34750035
Varsomers34750035
Maprs34750035
PheGenIrs34750035
hapmaprs34750035
1000 genomesrs34750035
hgdprs34750035
ensemblrs34750035
gopubmedrs34750035
geneviewrs34750035
scholarrs34750035
googlers34750035
pharmgkbrs34750035
gwascentralrs34750035
openSNPrs34750035
23andMers34750035
23andMe allrs34750035
SNP Nexus

SNPshotrs34750035
SNPdbers34750035
MSV3drs34750035
GWAS Ctlgrs34750035
Max Magnitude0
OMIM141900
Desc
Variant0426
Relatedalso


ClinVar
Risk rs34750035(;)
Alt rs34750035(;)
Reference rs34750035(AG;AG)
Significance Pathogenic
Disease Beta-thalassemia intermedia
Variation info
Gene HBB
CLNDBN Beta-thalassemia intermedia, dominant
Reversed 1
HGVS NC_000011.9:g.5247802_5247803delCT
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016779.26,



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