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rs34227486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34227486(A;A)
Make rs34227486(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226583
GeneHBB
is asnp
is mentioned by
dbSNPrs34227486
ebirs34227486
HLIrs34227486
Exacrs34227486
Varsomers34227486
Maprs34227486
PheGenIrs34227486
hapmaprs34227486
1000 genomesrs34227486
hgdprs34227486
ensemblrs34227486
gopubmedrs34227486
geneviewrs34227486
scholarrs34227486
googlers34227486
pharmgkbrs34227486
gwascentralrs34227486
openSNPrs34227486
23andMers34227486
23andMe allrs34227486
SNP Nexus

SNPshotrs34227486
SNPdbers34227486
MSV3drs34227486
GWAS Ctlgrs34227486
Max Magnitude0
OMIM141900
Desc
Variant0236
Relatedalso
ClinVar
Risk rs34227486(A,G;A,G)
Alt rs34227486(A,G;A,G)
Reference rs34227486(C;C)
Significance Untested
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247813G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029977.1,


[PMID 239952] Hemoglobin Richmond. Subunit dissociation and oxygen equilibrium properties.


[PMID 4981790] Hemoglobin Richmond, a human hemoglobin which forms asymmetric hybrids with other hemoglobins.


[PMID 5283757] Three-dimensional structure of abnormal human haemoglobins Kansas and Richmond.


[PMID 5481775] Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C.