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rs33949486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33949486(A;A)
Make rs33949486(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225632
GeneHBB
is asnp
is mentioned by
dbSNPrs33949486
ebirs33949486
HLIrs33949486
Exacrs33949486
Varsomers33949486
Maprs33949486
PheGenIrs33949486
hapmaprs33949486
1000 genomesrs33949486
hgdprs33949486
ensemblrs33949486
gopubmedrs33949486
geneviewrs33949486
scholarrs33949486
googlers33949486
pharmgkbrs33949486
gwascentralrs33949486
openSNPrs33949486
23andMers33949486
23andMe allrs33949486
SNP Nexus

SNPshotrs33949486
SNPdbers33949486
MSV3drs33949486
GWAS Ctlgrs33949486
Max Magnitude0
OMIM141900
Desc
Variant0112
Relatedalso
ClinVar
Risk rs33949486(A,C;A,C)
Alt rs33949486(A,C;A,C)
Reference rs33949486(G;G)
Significance Probable-non-pathogenic
Disease not specified beta Thalassemia
Variation info
Gene HBB
CLNDBN not specified beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246862C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016385.3, RCV000029996.1,


[PMID 721614] Association of Hb Hope with beta (0) thalassemia.


[PMID 6723027] Hemoglobin "Hope" interferes with measurement of glycated hemoglobin by ion-exchange chromatography and electrophoresis.


[PMID 6874374] Hb Hope [beta 136 (H 14) Gly leads to Asp] in a Japanese family.


[PMID 15658184] Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)]: interactions with Hb S [beta6(A3)Glu-->Val (GAG-->GTG)], other variant hemoglobins and thalassemia.


[PMID 17655700] Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease.


[PMID 19460936OA-icon.png] Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. [PMID 429843] Oxygen transport in a woman with hemoglobin Hope/beta+ thalassemia.


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


[PMID 932531] Hemoglobin Hope: studies of oxygen equilibrium in heterozygotes, hemoglobin S-Hope disease, and isolated hemoglobin Hope.


[PMID 1111279] Hemoglobin hope: beta136 (H13) Gly leads to Asp in Georgia.


[PMID 1428947] Association of Hb Hope [beta 136(H14)Gly----Asp] and alpha-thalassemia-2 (3.7 Kb deletion) causing severe microcytic anemia.


[PMID 1634366] Hb Hope [beta 136(H14) Gly----Asp] and Hb E [beta 26(B8)Glu----Lys]: compound heterozygosity in a Thai Mien family.


[PMID 6500990] Interaction between Hb S and Hb Hope in a Cuban family.