rs35004220

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226820

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs35004220
dbSNP (classic)	rs35004220
ClinGen	rs35004220
ebi	rs35004220
HLI	rs35004220
Exac	rs35004220
Gnomad	rs35004220
Varsome	rs35004220
LitVar	rs35004220
Map	rs35004220
PheGenI	rs35004220
Biobank	rs35004220
1000 genomes	rs35004220
hgdp	rs35004220
ensembl	rs35004220
geneview	rs35004220
scholar	rs35004220
google	rs35004220
pharmgkb	rs35004220
gwascentral	rs35004220
openSNP	rs35004220
23andMe	rs35004220
SNPshot	rs35004220
SNPdbe	rs35004220
MSV3d	rs35004220
GWAS Ctlg	rs35004220

Max Magnitude

4.5

Beta Thalassemia

https://www.23andme.com/you/journal/beta_thalassemia/techreport/

ClinVar
Risk	Rs35004220(A;A)
Alt	Rs35004220(A;A)
Reference	Rs35004220(G;G)
Significance	Pathogenic
Disease	Beta-plus-thalassemia Beta Thalassemia Beta thalassemia major
Variation	info
Gene	HBB
CLNDBN	Beta-plus-thalassemia beta Thalassemia Beta thalassemia major
Reversed	1
HGVS	NC_000011.9:g.5248050C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016712.27, RCV000020343.2, RCV000030008.1,

[PMID 1769663] Molecular heterogeneity of beta-thalassemia in mestizo Mexicans.

[PMID 2200760] Beta-thalassemia in Turkey.

[PMID 6264391] An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.

[PMID 6264477] Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.

[PMID 8619407] Haplotype analysis of the Mexican frameshift Cd 11 (-T) and -28 A->C beta-thalassemia alleles.

[PMID 11857746] Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.

[PMID 1390250] The beta-thalassaemia mutations in the population of Cyprus.