rs33972047

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Beta Thalassemia carrier; Hemoglobin beta-plus mutation
(G;G)	4.5	Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226963

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33972047
dbSNP (classic)	rs33972047
ClinGen	rs33972047
ebi	rs33972047
HLI	rs33972047
Exac	rs33972047
Gnomad	rs33972047
Varsome	rs33972047
LitVar	rs33972047
Map	rs33972047
PheGenI	rs33972047
Biobank	rs33972047
1000 genomes	rs33972047
hgdp	rs33972047
ensembl	rs33972047
geneview	rs33972047
scholar	rs33972047
google	rs33972047
pharmgkb	rs33972047
gwascentral	rs33972047
openSNP	rs33972047
23andMe	rs33972047
SNPshot	rs33972047
SNPdbe	rs33972047
MSV3d	rs33972047
GWAS Ctlg	rs33972047

Max Magnitude

4.5

OMIM	141900
Desc
Variant	0168
Related	also

ClinVar
Risk	Rs33972047(G;G)
Alt	Rs33972047(G;G)
Reference	Rs33972047(A;A)
Significance	Other
Disease	HEMOGLOBIN MALAY Beta-plus-thalassemia Beta-malay-thalassemia Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN MALAY Beta-plus-thalassemia Beta-malay-thalassemia beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248193T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016479.2, RCV000016480.26, RCV000016481.26, RCV000020338.2,

[PMID 2736244] Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.

[PMID 2393018 ] The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.

[PMID 10861818] beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay (beta codon 19 AAC-->AGC; asn-->Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutation.