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rs33925391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
(TG;TG) 0 common in clinvar
Make rs33925391(A;A)
Make rs33925391(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225662
GeneHBB
is asnp
is mentioned by
dbSNPrs33925391
dbSNP (old)rs33925391
ClinGenrs33925391
ebirs33925391
HLIrs33925391
Exacrs33925391
Gnomadrs33925391
Varsomers33925391
Maprs33925391
PheGenIrs33925391
Biobankrs33925391
1000 genomesrs33925391
hgdprs33925391
ensemblrs33925391
gopubmedrs33925391
geneviewrs33925391
scholarrs33925391
googlers33925391
pharmgkbrs33925391
gwascentralrs33925391
openSNPrs33925391
23andMers33925391
23andMe allrs33925391
SNP Nexus

SNPshotrs33925391
SNPdbers33925391
MSV3drs33925391
GWAS Ctlgrs33925391
Merged fromRs121909806, Rs121909809, Rs121909824
Max Magnitude0
OMIM141900
Desc
Variant0018
Relatedalso
OMIM141900
Desc
Variant0111
Relatedalso
OMIM141900
Desc
Variant0393
Relatedalso
ClinVar
Risk rs33925391(A;A) rs33925391(C;C) rs33925391(G;G)
Alt rs33925391(A;A) rs33925391(C;C) rs33925391(G;G)
Reference Rs33925391(T;T)
Significance Other
Disease Hemoglobinopathy HEMOGLOBIN BEIRUT HEMOGLOBIN HOFU
Variation info
Gene HBB
CLNDBN Hemoglobinopathy HEMOGLOBIN BEIRUT HEMOGLOBIN HOFU
Reversed 1
HGVS NC_000011.9:g.5246892A>C; NC_000011.9:g.5246892A>G; NC_000011.9:g.5246892A>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016741.4, RCV000016260.2, RCV000016384.2,


[PMID 457425] Hemoglobin Hofu (beta 126 Val is replaced by Glu) in a black American.


[PMID 750554] Hemoglobin Hofu or alpha 2 beta 2 [126 (H4) Va1 leads to Glu] found in combination with hemoglobin S.


[PMID 3923770] Hemoglobin Hofu associated with beta 0-thalassemia.


[PMID 8537236] Beta-thalassemia intermedia in an Indian female with the Hb Hofu [beta 126(H4)Val-->Glu]-beta zero-thalassemia [codons 8/9 (+G)] combination.


[PMID 6879184] Angiotensin synthesis in the brain and increased turnover in hypertensive rats.


[PMID 1463768] Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.


[PMID 1954392] Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.


[PMID 2399911] Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia.


[PMID 9028819] Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [beta 126(H4)Val-->Gly] in a patient from Naples, Italy.