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rs33996892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(AG;AG) 0 common in clinvar
Make rs33996892(A;T)
Make rs33996892(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225608
GeneHBB
is asnp
is mentioned by
dbSNPrs33996892
ebirs33996892
HLIrs33996892
Exacrs33996892
Varsomers33996892
Maprs33996892
PheGenIrs33996892
hapmaprs33996892
1000 genomesrs33996892
hgdprs33996892
ensemblrs33996892
gopubmedrs33996892
geneviewrs33996892
scholarrs33996892
googlers33996892
pharmgkbrs33996892
gwascentralrs33996892
openSNPrs33996892
23andMers33996892
23andMe allrs33996892
SNP Nexus

SNPshotrs33996892
SNPdbers33996892
MSV3drs33996892
GWAS Ctlgrs33996892
Merged fromRs121909829
Max Magnitude0
OMIM141900
Desc
Variant0488
Relatedalso
ClinVar
Risk rs33996892(T;T)
Alt rs33996892(T;T)
Reference rs33996892(A;A)
Significance Other
Disease HEMOGLOBIN BARBIZON
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BARBIZON
Reversed 1
HGVS NC_000011.9:g.5246838T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016843.2,


[PMID 10081983] Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)Val-->Gly] and Hb Barbizon [beta144(HC1)Lys-->Met].