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rs33932908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33932908(A;A)
Make rs33932908(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225704
GeneHBB
is asnp
is mentioned by
dbSNPrs33932908
ebirs33932908
HLIrs33932908
Exacrs33932908
Varsomers33932908
Maprs33932908
PheGenIrs33932908
hapmaprs33932908
1000 genomesrs33932908
hgdprs33932908
ensemblrs33932908
gopubmedrs33932908
geneviewrs33932908
scholarrs33932908
googlers33932908
pharmgkbrs33932908
gwascentralrs33932908
openSNPrs33932908
23andMers33932908
23andMe allrs33932908
SNP Nexus

SNPshotrs33932908
SNPdbers33932908
MSV3drs33932908
GWAS Ctlgrs33932908
Max Magnitude0
OMIM141900
Desc
Variant0413
Relatedalso
OMIM141900
Desc
Variant0506
Relatedalso
ClinVar
Risk rs33932908(A,T;A,T)
Alt rs33932908(A,T;A,T)
Reference rs33932908(G;G)
Significance Other
Disease HEMOGLOBIN CANTERBURY HEMOGLOBIN YAHATA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CANTERBURY HEMOGLOBIN YAHATA
Reversed 1
HGVS NC_000011.9:g.5246934C>A; NC_000011.9:g.5246934C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016862.2, RCV000016764.2,


[PMID 1917530] A new abnormal variant, Hb Yahata or beta 112(G14)Cys----Tyr, found in a Japanese: structural confirmation by DNA sequencing of the beta-globin gene.


[PMID 11939514] Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant.