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rs33914944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33914944(C;C)
Make rs33914944(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226577
GeneHBB
is asnp
is mentioned by
dbSNPrs33914944
ebirs33914944
HLIrs33914944
Exacrs33914944
Varsomers33914944
Maprs33914944
PheGenIrs33914944
hapmaprs33914944
1000 genomesrs33914944
hgdprs33914944
ensemblrs33914944
gopubmedrs33914944
geneviewrs33914944
scholarrs33914944
googlers33914944
pharmgkbrs33914944
gwascentralrs33914944
openSNPrs33914944
23andMers33914944
23andMe allrs33914944
SNP Nexus

SNPshotrs33914944
SNPdbers33914944
MSV3drs33914944
GWAS Ctlgrs33914944
Max Magnitude0
OMIM141900
Desc
Variant0042
Relatedalso
OMIM141900
Desc
Variant0427
Relatedalso
ClinVar
Risk rs33914944(C,T;C,T)
Alt rs33914944(C,T;C,T)
Reference rs33914944(G;G)
Significance Pathogenic
Disease Hb camperdown
Variation info
Gene HBB
CLNDBN Hb camperdown
Reversed 1
HGVS NC_000011.9:g.5247807C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016789.26,


[PMID 1138922] Haemoglobin Camperdown beta104(G6) arginine leads to serine.


[PMID 1814857] Application of reversed phase high performance liquid chromatography and plasma desorption mass spectrometry for the characterization of a hemoglobin variant.


[PMID 2606725] Inhibition of oxygen-linked anion binding in Hb Camperdown [alpha 2 beta 2(104)(G6)Arg----Ser].