rs33952266

Orientation

minus

Stabilized

minus

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

Make rs33952266(A;A)

Make rs33952266(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225727

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33952266
dbSNP (classic)	rs33952266
ClinGen	rs33952266
ebi	rs33952266
HLI	rs33952266
Exac	rs33952266
Gnomad	rs33952266
Varsome	rs33952266
LitVar	rs33952266
Map	rs33952266
PheGenI	rs33952266
Biobank	rs33952266
1000 genomes	rs33952266
hgdp	rs33952266
ensembl	rs33952266
geneview	rs33952266
scholar	rs33952266
google	rs33952266
pharmgkb	rs33952266
gwascentral	rs33952266
openSNP	rs33952266
23andMe	rs33952266
SNPshot	rs33952266
SNPdbe	rs33952266
MSV3d	rs33952266
GWAS Ctlg	rs33952266

Max Magnitude

0

OMIM	141900
Desc
Variant	0423
Related	also

OMIM	141900
Desc
Variant	0454
Related	also

ClinVar
Risk	rs33952266(A;A) rs33952266(C;C) rs33952266(T;T)
Alt	rs33952266(A;A) rs33952266(C;C) rs33952266(T;T)
Reference	Rs33952266(G;G)
Significance	Untested
Disease
Variation	info
Gene	HBB
CLNDBN
Reversed	1
HGVS	NC_000011.9:g.5246957C>A; NC_000011.9:g.5246957C>G; NC_000011.9:g.5246957C>T
CLNSRC	GTR HBVAR
CLNACC

[PMID 7558878] A newly discovered beta O-thalassemia (IVS-II-850, G-->A) mutation in a north European family.

[PMID 1398296] A new mutation in the beta-globin gene (IVS II-850 G-C) found in a Yugoslavian beta-thalassemia heterozygote.

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