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rs33977536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33977536(A;G)
Make rs33977536(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226957
GeneHBB
is asnp
is mentioned by
dbSNPrs33977536
dbSNP (classic)rs33977536
ClinGenrs33977536
ebirs33977536
HLIrs33977536
Exacrs33977536
Gnomadrs33977536
Varsomers33977536
LitVarrs33977536
Maprs33977536
PheGenIrs33977536
Biobankrs33977536
1000 genomesrs33977536
hgdprs33977536
ensemblrs33977536
geneviewrs33977536
scholarrs33977536
googlers33977536
pharmgkbrs33977536
gwascentralrs33977536
openSNPrs33977536
23andMers33977536
SNPshotrs33977536
SNPdbers33977536
MSV3drs33977536
GWAS Ctlgrs33977536
Max Magnitude0
OMIM141900
Desc
Variant0054
Relatedalso
ClinVar
Risk rs33977536(G;G) rs33977536(T;T)
Alt rs33977536(G;G) rs33977536(T;T)
Reference Rs33977536(A;A)
Significance Other
Disease HEMOGLOBIN CONNECTICUT
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CONNECTICUT
Reversed 1
HGVS NC_000011.9:g.5248187T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016305.3,


[PMID 7304605] Hemoglobin connecticut (beta 21 (B3) Asp leads to Gly): a hemoglobin variant with low oxygen affinity.


[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.