rs33930702

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs33930702(A;A)

Make rs33930702(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5227019

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33930702
dbSNP (classic)	rs33930702
ClinGen	rs33930702
ebi	rs33930702
HLI	rs33930702
Exac	rs33930702
Gnomad	rs33930702
Varsome	rs33930702
LitVar	rs33930702
Map	rs33930702
PheGenI	rs33930702
Biobank	rs33930702
1000 genomes	rs33930702
hgdp	rs33930702
ensembl	rs33930702
geneview	rs33930702
scholar	rs33930702
google	rs33930702
pharmgkb	rs33930702
gwascentral	rs33930702
openSNP	rs33930702
23andMe	rs33930702
SNPshot	rs33930702
SNPdbe	rs33930702
MSV3d	rs33930702
GWAS Ctlg	rs33930702

Max Magnitude

0

OMIM	141900
Desc
Variant	0430
Related	also

ClinVar
Risk	rs33930702(A;A) rs33930702(C;C) rs33930702(T;T)
Alt	rs33930702(A;A) rs33930702(C;C) rs33930702(T;T)
Reference	Rs33930702(G;G)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248249C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016783.27,

[PMID 1301952] A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.

[PMID 7864023] Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.

[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.

[PMID 8718703] Molecular analyses of beta-thalassemia in Iran.