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rs33927093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33927093(A;A)
Make rs33927093(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225620
GeneHBB
is asnp
is mentioned by
dbSNPrs33927093
ebirs33927093
HLIrs33927093
Exacrs33927093
Varsomers33927093
Maprs33927093
PheGenIrs33927093
hapmaprs33927093
1000 genomesrs33927093
hgdprs33927093
ensemblrs33927093
gopubmedrs33927093
geneviewrs33927093
scholarrs33927093
googlers33927093
pharmgkbrs33927093
gwascentralrs33927093
openSNPrs33927093
23andMers33927093
23andMe allrs33927093
SNP Nexus

SNPshotrs33927093
SNPdbers33927093
MSV3drs33927093
GWAS Ctlgrs33927093
Max Magnitude0
OMIM141900
Desc
Variant0107
Relatedalso
OMIM141900
Desc
Variant0457
Relatedalso
ClinVar
Risk rs33927093(A,T;A,T)
Alt rs33927093(A,T;A,T)
Reference rs33927093(C;C)
Significance Other
Disease HEMOGLOBIN PUTTELANGE HEMOGLOBIN HIMEJI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PUTTELANGE HEMOGLOBIN HIMEJI
Reversed 1
HGVS NC_000011.9:g.5246850G>A; NC_000011.9:g.5246850G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016811.2, RCV000016380.2,


[PMID 1680833] Hb Himeji [alpha 2 beta 2(140)(H18)Ala----Asp] is linked to different haplotypes in Japanese and Portuguese families.


[PMID 2753739] Hb Himeji or alpha 2 beta 2(140)(H18)Ala----Asp in a Portuguese family.


[PMID 3754244] Hb Himeji or beta 140 (H18) Ala----Asp. A slightly unstable hemoglobin with increased beta N-terminal glycation.


[PMID 8522332] Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity.