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rs33971048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33971048(A;T)
Make rs33971048(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226593
GeneHBB
is asnp
is mentioned by
dbSNPrs33971048
ebirs33971048
HLIrs33971048
Exacrs33971048
Varsomers33971048
Maprs33971048
PheGenIrs33971048
hapmaprs33971048
1000 genomesrs33971048
hgdprs33971048
ensemblrs33971048
gopubmedrs33971048
geneviewrs33971048
scholarrs33971048
googlers33971048
pharmgkbrs33971048
gwascentralrs33971048
openSNPrs33971048
23andMers33971048
23andMe allrs33971048
SNP Nexus

SNPshotrs33971048
SNPdbers33971048
MSV3drs33971048
GWAS Ctlgrs33971048
Max Magnitude0
OMIM141900
Desc
Variant0046
Relatedalso
OMIM141900
Desc
Variant0114
Relatedalso
OMIM141900
Desc
Variant0230
Relatedalso
ClinVar
Risk rs33971048(C,G,T;C,G,T)
Alt rs33971048(C,G,T;C,G,T)
Reference rs33971048(A;A)
Significance Other
Disease HEMOGLOBIN CHEMILLY HEMOGLOBIN HOTEL-DIEU HEMOGLOBIN RADCLIFFE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CHEMILLY HEMOGLOBIN HOTEL-DIEU HEMOGLOBIN RADCLIFFE
Reversed 1
HGVS NC_000011.9:g.5247823T>A; NC_000011.9:g.5247823T>C; NC_000011.9:g.5247823T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016297.2, RCV000016388.2, RCV000016555.2,


[PMID 857849] Haemoglobin Radcliffe (alpha2beta299(Gi)Ala): a high oxygen-affinity variant causing familial polycythaemia.


[PMID 7204092] Hemoglobin Hotel-Dieu beta 99 Asp replaced by Gly (g1). A new abnormal hemoglobin with high oxygen affinity.


[PMID 9787331] Characterization of hemoglobin Hotel Dieu in a Puerto Rican adolescent.


[PMID 6692925] A new hemoglobin variant altering the alpha 1 beta 2 contact: Hb Chemilly alpha 2 beta 2 99(G1)Asp leads to Val.