rs33925391

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in complete genomics
(TG;TG)	0	common in clinvar

Make rs33925391(A;A)

Make rs33925391(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225662

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33925391
dbSNP (classic)	rs33925391
ClinGen	rs33925391
ebi	rs33925391
HLI	rs33925391
Exac	rs33925391
Gnomad	rs33925391
Varsome	rs33925391
LitVar	rs33925391
Map	rs33925391
PheGenI	rs33925391
Biobank	rs33925391
1000 genomes	rs33925391
hgdp	rs33925391
ensembl	rs33925391
geneview	rs33925391
scholar	rs33925391
google	rs33925391
pharmgkb	rs33925391
gwascentral	rs33925391
openSNP	rs33925391
23andMe	rs33925391
SNPshot	rs33925391
SNPdbe	rs33925391
MSV3d	rs33925391
GWAS Ctlg	rs33925391

Merged from

Rs121909806, Rs121909809, Rs121909824

Max Magnitude

0

OMIM	141900
Desc
Variant	0018
Related	also

OMIM	141900
Desc
Variant	0111
Related	also

OMIM	141900
Desc
Variant	0393
Related	also

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.