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rs33991779

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33991779(G;T)
Make rs33991779(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177111
GeneHBA1
is asnp
is mentioned by
dbSNPrs33991779
ebirs33991779
HLIrs33991779
Exacrs33991779
Varsomers33991779
Maprs33991779
PheGenIrs33991779
hapmaprs33991779
1000 genomesrs33991779
hgdprs33991779
ensemblrs33991779
gopubmedrs33991779
geneviewrs33991779
scholarrs33991779
googlers33991779
pharmgkbrs33991779
gwascentralrs33991779
openSNPrs33991779
23andMers33991779
23andMe allrs33991779
SNP Nexus

SNPshotrs33991779
SNPdbers33991779
MSV3drs33991779
GWAS Ctlgrs33991779
Max Magnitude0
OMIM141800
Desc
Variant0018
Relatedalso
OMIM141800
Desc
Variant0063
Relatedalso
ClinVar
Risk rs33991779(A,C,T;A,C,T)
Alt rs33991779(A,C,T;A,C,T)
Reference rs33991779(G;G)
Significance Other
Disease HEMOGLOBIN J (CAPE TOWN) HEMOGLOBIN CHESAPEAKE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (CAPE TOWN) HEMOGLOBIN CHESAPEAKE
Reversed 0
HGVS NC_000016.9:g.227110G>A; NC_000016.9:g.227110G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017062.3, RCV000017005.3,


[PMID 729801] A Hb J Cape Town homozygote--association of Hb J Cape Town and alpha-thalassaemia.


[PMID 5090068OA-icon.png] Oxygen equilibrium of hemoglobin J Cape Town.


[PMID 5091982] Ligand binding in hemoglobin J Capetown.


[PMID 5416469] High resolution nuclear magnetic resonance studies of haemoglobin J Capetown.


[PMID 5988206] Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.


[PMID 17486491] Hb J-Cape Town [alpha92(FG4)Arg-->Gln (alpha1), CGG-->CAG] in Southern Italy found in a patient with erythrocytosis.


[PMID 481959] The effect of hemoglobin F-Chesapeake (alpha 2 92 Arg. leads to Leu gamma 2) on fetal oxygen affinity and erythropoiesis.


[PMID 4436307] Allosteric transition and ligand binding in hemoglobin Chesapeake.


[PMID 4436327] Hemoglobin Chesapeake (92 alpha, arginine--leucine). Precise measurements and analyses of oxygen equilibrium.


[PMID 5157353] Three-dimensional structure of abnormal human haemoglobins Chesapeake and J Capetown.


[PMID 5913291OA-icon.png] Polycythemia associated with a hemoglobinopathy.


[PMID 5967288] Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).


[PMID 6629827] Hb Chesapeake [alpha 92 (FG 4) Arg replaced by Leu] and Hb J Cape Town [alpha 92 (FG 4) Arg leads to Gln] first discovered in Japanese.


[PMID 11146582] A new case of hemoglobin Chesapeake.