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rs33910209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33910209(A;A)
Make rs33910209(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225648
GeneHBB
is asnp
is mentioned by
dbSNPrs33910209
ebirs33910209
HLIrs33910209
Exacrs33910209
Varsomers33910209
Maprs33910209
PheGenIrs33910209
hapmaprs33910209
1000 genomesrs33910209
hgdprs33910209
ensemblrs33910209
gopubmedrs33910209
geneviewrs33910209
scholarrs33910209
googlers33910209
pharmgkbrs33910209
gwascentralrs33910209
openSNPrs33910209
23andMers33910209
23andMe allrs33910209
SNP Nexus

SNPshotrs33910209
SNPdbers33910209
MSV3drs33910209
GWAS Ctlgrs33910209
Max Magnitude0
OMIM141900
Desc
Variant0143
Relatedalso
OMIM141900
Desc
Variant0259
Relatedalso
ClinVar
Risk rs33910209(A,G;A,G)
Alt rs33910209(A,G;A,G)
Reference rs33910209(C;C)
Significance Other
Disease HEMOGLOBIN SHELBY HEMOGLOBIN LESLIE HEMOGLOBIN DEACONESS
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SHELBY HEMOGLOBIN LESLIE HEMOGLOBIN DEACONESS
Reversed 1
HGVS NC_000011.9:g.5246878G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016593.3, RCV000016594.3, RCV000016595.3,


[PMID 808079] Hb Camden and Hb Hope found during routine testing.


[PMID 4550044] Letter: Amino-acid substitution in the alpha 1 beta 1 intersubunit contact of haemoglobin-Camden beta 131 (h9) g1n leads to g1u.


[PMID 747178] Is the trimodality of Hb Leslie (alpha 2 beta 2 131 Gln---O) in heterozygotes the result of a variable number of active alpha-chain genes? Evidence for posttranslational control of hemoglobin synthesis.


[PMID 1244915] Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS.


[PMID 1428946] Hb Shelby [alpha 2 beta 2(131)(H9)Gln----Lys]-beta zero-thalassemia [codon 15 (TGG----TGA)] identified by DNA sequencing.


[PMID 6526653] Hemoglobin Shelby [beta 131(H9) Gln----Lys] a correction to the structure of hemoglobin Deaconess and hemoglobin Leslie.


[PMID 6526654] Hb Leslie is the same as Hb Shelby or alpha 2 beta 2 131 (H9)Gln----Lys.


[PMID 7390864] beta 0-Thalassemia in association with Hb Leslie (alpha 2 beta 2 131Gln leads to O) in a Sardinian family.


[PMID 8226094] Hb Shelby [beta 131(H9)Gln-->Lys] in association with Hb S [beta 6(A3)Glu-->Val]: characterization, stability, and effects on Hb S polymerization.