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rs33976006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33976006(G;T)
Make rs33976006(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226668
GeneHBB
is asnp
is mentioned by
dbSNPrs33976006
ClinGenrs33976006
ebirs33976006
HLIrs33976006
Exacrs33976006
Varsomers33976006
Maprs33976006
PheGenIrs33976006
hapmaprs33976006
1000 genomesrs33976006
hgdprs33976006
ensemblrs33976006
gopubmedrs33976006
geneviewrs33976006
scholarrs33976006
googlers33976006
pharmgkbrs33976006
gwascentralrs33976006
openSNPrs33976006
23andMers33976006
23andMe allrs33976006
SNP Nexus

SNPshotrs33976006
SNPdbers33976006
MSV3drs33976006
GWAS Ctlgrs33976006
Max Magnitude0
OMIM141900
Desc
Variant0037
Relatedalso
OMIM141900
Desc
Variant0260
Relatedalso
ClinVar
Risk rs33976006(A;A) rs33976006(T;T)
Alt rs33976006(A;A) rs33976006(T;T)
Reference Rs33976006(G;G)
Significance Other
Disease HEMOGLOBIN BUSHWICK HEMOGLOBIN SHEPHERDS BUSH
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BUSHWICK HEMOGLOBIN SHEPHERDS BUSH
Reversed 1
HGVS NC_000011.9:g.5247898C>A; NC_000011.9:g.5247898C>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016283.2, RCV000016596.2,


[PMID 1124135] Rapid postsynthetic destruction of unstable haemoglobin Bushwick.


[PMID 3841345] Hb Bushwick, an unstable hemoglobin with tendency to lose heme.


[PMID 7655024] Severe hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick).


[PMID 402764] Haemoglobin Shepherds Bush (beta 74 [E 18] Gly leads to Asp) in an Italian family.


[PMID 5032098] The control of oxygen affinity of red cells with Hb-Shepherds Bush.


[PMID 5415129] Mild "unstable haemoglobin haemolytic anaemia" caused by haemoglobin Shepherds Bush(B74(E18) gly--asp).


[PMID 7275665] HB Shepherds Bush (alpha 2 beta 2 74 (E18) Gly replaced by Asp) in two Italian carriers.