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rs33917785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33917785(G;G)
Make rs33917785(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226617
GeneHBB
is asnp
is mentioned by
dbSNPrs33917785
ebirs33917785
HLIrs33917785
Exacrs33917785
Varsomers33917785
Maprs33917785
PheGenIrs33917785
hapmaprs33917785
1000 genomesrs33917785
hgdprs33917785
ensemblrs33917785
gopubmedrs33917785
geneviewrs33917785
scholarrs33917785
googlers33917785
pharmgkbrs33917785
gwascentralrs33917785
openSNPrs33917785
23andMers33917785
23andMe allrs33917785
SNP Nexus

SNPshotrs33917785
SNPdbers33917785
MSV3drs33917785
GWAS Ctlgrs33917785
Max Magnitude0
OMIM141900
Desc
Variant0043
Relatedalso
OMIM141900
Desc
Variant0248
Relatedalso
ClinVar
Risk rs33917785(C,G;C,G)
Alt rs33917785(C,G;C,G)
Reference rs33917785(T;T)
Significance Other
Disease HEMOGLOBIN CARIBBEAN HEMOGLOBIN SABINE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CARIBBEAN HEMOGLOBIN SABINE
Reversed 1
HGVS NC_000011.9:g.5247847A>C; NC_000011.9:g.5247847A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016294.2, RCV000016581.3,


[PMID 4745776] Structure and synthesis of the unstable hemoglobin Sabin (alpha 2 beta 2--91 Leu leads to pro).


[PMID 5160147] Unstable hemoglobin hemolytic anemia: in vitro incubation studies on erythrocytes with hemoglobin Sabine.


[PMID 5773354] Hemoglobin sabine beta 91 (f 7) leu to pro. An unstable variant causing severe anemia with inclusion bodies.


[PMID 6671906] Hb Sabine or alpha 2 beta 2 91 (F7) Leu----Pro in a Yugoslavian boy.


[PMID 9629500] Familial hemolytic anemia due to Hb Sabine [beta 91(F7)Leu-->Pro] identified by polymerase chain reaction.


[PMID 992050] Haemoglobin caribbean beta91 (F7) Leu replaced by Arg: a mildly haemoglobin with a low oxygen affinity.


[PMID 3384706] Some rare hemoglobin variants with altered oxygen affinities; Hb linkoping [beta 36(C2)Pro----Thr], Hb Caribbean [beta 91(F7)Leu----Arg], and Hb Sunnybrook [beta 36(C2)Pro----Arg].


[PMID 8042613] DNA diagnosis of Hb S and Hb Caribbean (alpha 2 beta 2 91 Leu-->Arg) in a Jamaican family.