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rs33912272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33912272(C;T)
Make rs33912272(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227006
GeneHBB
is asnp
is mentioned by
dbSNPrs33912272
ebirs33912272
HLIrs33912272
Exacrs33912272
Varsomers33912272
Maprs33912272
PheGenIrs33912272
hapmaprs33912272
1000 genomesrs33912272
hgdprs33912272
ensemblrs33912272
gopubmedrs33912272
geneviewrs33912272
scholarrs33912272
googlers33912272
pharmgkbrs33912272
gwascentralrs33912272
openSNPrs33912272
23andMers33912272
23andMe allrs33912272
SNP Nexus

SNPshotrs33912272
SNPdbers33912272
MSV3drs33912272
GWAS Ctlgrs33912272
GMAF0.0004591
Max Magnitude0
OMIM141900
Desc
Variant0451
Relatedalso
ClinVar
Risk rs33912272(G,T;G,T)
Alt rs33912272(G,T;G,T)
Reference rs33912272(C;C)
Significance Other
Disease HEMOGLOBIN TYNE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TYNE
Reversed 1
HGVS NC_000011.9:g.5248236G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016806.2,


[PMID 7852088] A new beta chain variant, Hb Tyne [beta 5(A2)Pro-->Ser].


[PMID 12507970] Hemoglobin Gorwihl [alpha2beta(2)5(A2)Pro-->Ala], an electrophoretically silent variant with impaired glycation.


[PMID 20353350] Relationship between impaired glycation and the N-terminal structure of the Hb Gorwihl [beta5(A2)Pro-->Ala] variant.