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rs33949869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs33949869(C;C)
Make rs33949869(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225606
GeneHBB
is asnp
is mentioned by
dbSNPrs33949869
ebirs33949869
HLIrs33949869
Exacrs33949869
Varsomers33949869
Maprs33949869
PheGenIrs33949869
hapmaprs33949869
1000 genomesrs33949869
hgdprs33949869
ensemblrs33949869
gopubmedrs33949869
geneviewrs33949869
scholarrs33949869
googlers33949869
pharmgkbrs33949869
gwascentralrs33949869
openSNPrs33949869
23andMers33949869
23andMe allrs33949869
SNP Nexus

SNPshotrs33949869
SNPdbers33949869
MSV3drs33949869
GWAS Ctlgrs33949869
Max Magnitude0
OMIM141900
Desc
Variant0022
Relatedalso
OMIM141900
Desc
Variant0211
Relatedalso
ClinVar
Risk rs33949869(A,C,G;A,C,G)
Alt rs33949869(A,C,G;A,C,G)
Reference rs33949869(T;T)
Significance Other
Disease HEMOGLOBIN BETHESDA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BETHESDA
Reversed 1
HGVS NC_000011.9:g.5246836A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016267.2,


[PMID 949044] Hemoglobin Bethesda, beta 145 (HC2) Tyr replaced by His, in a Canadian family.


[PMID 4639015OA-icon.png] Structural and functional studies on hemoglobin Bethesda (alpha2beta2 145His), a varient associated with compensatory erythrocytosis.


[PMID 5030636] The functional properties of hemoglobin Bethesda ( 2 2 145His ).


[PMID 5080413OA-icon.png] Erythrocyte function and marrow regulation in hemoglobin Bethesda (beta-145 histidine).


[PMID 1117598] Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp).


[PMID 1164510] Hemoglobin Fort Gordon or alpha2beta2145 Tyr replaced by Asp, a new high-oxygen-affinity hemoglobin variant.


[PMID 7158624] Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy.


[PMID 8701949] Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn.


[PMID 9101280] Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification.


[PMID 9405] X-ray and functional studies of hemoglobins Nancy and Cochin-Port-Royal.


[PMID 239863] Structural and functional study of Hb Nancy beta 145 (HC 2) Tyr replaced by Asp. A high oxygen affinity hemoglobin.


[PMID 9766188] Hb Nancy and Hb Osler: two distinct genetic variants with identical clinical and hemoglobin phenotype.