rs33956879

minus

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

Make rs33956879(A;A)

Make rs33956879(A;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226928

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33956879
dbSNP (classic)	rs33956879
ClinGen	rs33956879
ebi	rs33956879
HLI	rs33956879
Exac	rs33956879
Gnomad	rs33956879
Varsome	rs33956879
LitVar	rs33956879
Map	rs33956879
PheGenI	rs33956879
Biobank	rs33956879
1000 genomes	rs33956879
hgdp	rs33956879
ensembl	rs33956879
geneview	rs33956879
scholar	rs33956879
google	rs33956879
pharmgkb	rs33956879
gwascentral	rs33956879
openSNP	rs33956879
23andMe	rs33956879
SNPshot	rs33956879
SNPdbe	rs33956879
MSV3d	rs33956879
GWAS Ctlg	rs33956879

Max Magnitude

0

OMIM	141900
Desc
Variant	0349
Related	also

OMIM	141900
Desc
Variant	0350
Related	also

OMIM	141900
Desc
Variant	0392
Related	also

ClinVar
Risk	rs33956879(A;A) rs33956879(C;C) rs33956879(G;G)
Alt	rs33956879(A;A) rs33956879(C;C) rs33956879(G;G)
Reference	Rs33956879(T;T)
Significance	Pathogenic
Disease	Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248158A>G
CLNSRC	HBVAR
CLNACC	RCV000030003.1,

[PMID 2393712] A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from Algeria.

[PMID 2917118] Severe Hb S-beta zero-thalassaemia with a T----C substitution in the donor splice site of the first intron of the beta-globin gene.

[PMID 8037197] An African origin for an "American black" beta zero-thalassemia mutation?

[PMID 14576320 ] Intrinsic differences between authentic and cryptic 5' splice sites.

[PMID 15108284] Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

[PMID 20406103] Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutations.

[PMID 3422218] The peculiar spectrum of beta-thalassemia genes in Tunisia.