rs33994806

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs33994806(A;A)

Make rs33994806(A;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5227157

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33994806
dbSNP (classic)	rs33994806
ClinGen	rs33994806
ebi	rs33994806
HLI	rs33994806
Exac	rs33994806
Gnomad	rs33994806
Varsome	rs33994806
LitVar	rs33994806
Map	rs33994806
PheGenI	rs33994806
Biobank	rs33994806
1000 genomes	rs33994806
hgdp	rs33994806
ensembl	rs33994806
geneview	rs33994806
scholar	rs33994806
google	rs33994806
pharmgkb	rs33994806
gwascentral	rs33994806
openSNP	rs33994806
23andMe	rs33994806
SNPshot	rs33994806
SNPdbe	rs33994806
MSV3d	rs33994806
GWAS Ctlg	rs33994806

Max Magnitude

0

ClinVar
Risk	rs33994806(A;A) rs33994806(G;G) rs33994806(T;T)
Alt	rs33994806(A;A) rs33994806(G;G) rs33994806(T;T)
Reference	Rs33994806(C;C)
Significance	Pathogenic
Disease	Beta Thalassemia Beta-plus-thalassemia
Variation	info
Gene	HBB
CLNDBN	beta Thalassemia Beta-plus-thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248387G>A; NC_000011.9:g.5248387G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029949.1, RCV000016723.26, RCV000029948.2,

[PMID 1550780] Promoter mutations producing mild beta-thalassaemia in the Italian population.

[PMID 2197725] The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

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