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rs33966487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33966487(A;A)
Make rs33966487(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226588
GeneHBB
is asnp
is mentioned by
dbSNPrs33966487
ebirs33966487
HLIrs33966487
Exacrs33966487
Varsomers33966487
Maprs33966487
PheGenIrs33966487
hapmaprs33966487
1000 genomesrs33966487
hgdprs33966487
ensemblrs33966487
gopubmedrs33966487
geneviewrs33966487
scholarrs33966487
googlers33966487
pharmgkbrs33966487
gwascentralrs33966487
openSNPrs33966487
23andMers33966487
23andMe allrs33966487
SNP Nexus

SNPshotrs33966487
SNPdbers33966487
MSV3drs33966487
GWAS Ctlgrs33966487
Max Magnitude0
OMIM141900
Desc
Variant0031
Relatedalso
OMIM141900
Desc
Variant0242
Relatedalso
ClinVar
Risk rs33966487(A,C;A,C)
Alt rs33966487(A,C;A,C)
Reference rs33966487(G;G)
Significance Other
Disease HEMOGLOBIN RUSH HEMOGLOBIN BRITISH COLUMBIA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN RUSH HEMOGLOBIN BRITISH COLUMBIA
Reversed 1
HGVS NC_000011.9:g.5247818C>G; NC_000011.9:g.5247818C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016572.2, RCV000016274.2,


[PMID 3997804] Involvement of Glu G3(101)beta in the function of hemoglobin. Comparative O2 equilibrium studies of human mutant hemoglobins.


[PMID 4129558] Hemoglobin Rush (beta 101 (g3) glutamine): a new unstable hemoglobin causing mild hemolytic anemia.