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rs33916541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GG;GG) 0 common in clinvar
Make rs33916541(C;C)
Make rs33916541(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226669
GeneHBB
is asnp
is mentioned by
dbSNPrs33916541
ebirs33916541
HLIrs33916541
Exacrs33916541
Varsomers33916541
Maprs33916541
PheGenIrs33916541
hapmaprs33916541
1000 genomesrs33916541
hgdprs33916541
ensemblrs33916541
gopubmedrs33916541
geneviewrs33916541
scholarrs33916541
googlers33916541
pharmgkbrs33916541
gwascentralrs33916541
openSNPrs33916541
23andMers33916541
23andMe allrs33916541
SNP Nexus

SNPshotrs33916541
SNPdbers33916541
MSV3drs33916541
GWAS Ctlgrs33916541
Merged fromRs121909804
Max Magnitude0
OMIM141900
Desc
Variant0001
Relatedalso
ClinVar
Risk rs33916541(A,C;A,C)
Alt rs33916541(A,C;A,C)
Reference rs33916541(G;G)
Significance Other
Disease HEMOGLOBIN AALBORG
Variation info
Gene HBB
CLNDBN HEMOGLOBIN AALBORG
Reversed 1
HGVS NC_000011.9:g.5247899C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016242.2,


[PMID 2272837] Characterization of Hb Aalborg, a new unstable hemoglobin variant, by fast atom bombardment mass spectrometry.