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rs34165323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34165323(A;G)
Make rs34165323(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226693
GeneHBB
is asnp
is mentioned by
dbSNPrs34165323
ebirs34165323
HLIrs34165323
Exacrs34165323
Varsomers34165323
Maprs34165323
PheGenIrs34165323
hapmaprs34165323
1000 genomesrs34165323
hgdprs34165323
ensemblrs34165323
gopubmedrs34165323
geneviewrs34165323
scholarrs34165323
googlers34165323
pharmgkbrs34165323
gwascentralrs34165323
openSNPrs34165323
23andMers34165323
23andMe allrs34165323
SNP Nexus

SNPshotrs34165323
SNPdbers34165323
MSV3drs34165323
GWAS Ctlgrs34165323
Max Magnitude0
OMIM141900
Desc
Variant0116
Relatedalso


ClinVar
Risk rs34165323(G;G)
Alt rs34165323(G;G)
Reference rs34165323(A;A)
Significance Pathogenic
Disease Hemoglobinopathy
Variation info
Gene HBB
CLNDBN Hemoglobinopathy
Reversed 1
HGVS NC_000011.9:g.5247923T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016390.3,



[PMID 5577462] Hemoglobin toulouse alpha 2 beta 2 66 (E 10) LysGlu. Structure and consequences in molecular pathology.


[PMID 5791730] Haemoglobin I toulouse: beta-66 (E 10) lys glu: a new abnormal haemoglobin with a mutation localized on the E 10 porphyrin surrounding zone.


[PMID 7928379] Hb I-Toulouse [beta 66(E10)Lys->Glu] in association with alpha-thalassemia.