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rs33933298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GT;GT) 0 common in clinvar
Make rs33933298(A;A)
Make rs33933298(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226597
GeneHBB
is asnp
is mentioned by
dbSNPrs33933298
ebirs33933298
HLIrs33933298
Exacrs33933298
Varsomers33933298
Maprs33933298
PheGenIrs33933298
hapmaprs33933298
1000 genomesrs33933298
hgdprs33933298
ensemblrs33933298
gopubmedrs33933298
geneviewrs33933298
scholarrs33933298
googlers33933298
pharmgkbrs33933298
gwascentralrs33933298
openSNPrs33933298
23andMers33933298
23andMe allrs33933298
SNP Nexus

SNPshotrs33933298
SNPdbers33933298
MSV3drs33933298
GWAS Ctlgrs33933298
Merged fromRs121909813
Max Magnitude0
OMIM141900
Desc
Variant0151
Relatedalso
ClinVar
Risk rs33933298(A,T;A,T)
Alt rs33933298(A,T;A,T)
Reference rs33933298(G;G)
Significance Other
Disease Hemoglobinopathy Heinz body anemia HEMOGLOBIN MEDICINE LAKE
Variation info
Gene HBB
CLNDBN Hemoglobinopathy Heinz body anemia HEMOGLOBIN MEDICINE LAKE
Reversed 1
HGVS NC_000011.9:g.5247827C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016443.5, RCV000016446.28, RCV000016807.2,


[PMID 2283293] Unstable hemoglobins.


[PMID 5881530] [Hemoglobin Koln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly].


[PMID 5960324] Haemoglobin Koln (beta-98 valine--methionine): an unstable protein causing inclusion-body anaemia.


[PMID 9136923] Thromboembolic complication of splenectomy in unstable hemoglobin disorders: Hb Olmsted, Hb Koln.