rs34533941

Orientation

minus

Stabilized

minus

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

Make rs34533941(-;TG)

Make rs34533941(TG;TG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226608

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs34533941
dbSNP (classic)	rs34533941
ClinGen	rs34533941
ebi	rs34533941
HLI	rs34533941
Exac	rs34533941
Gnomad	rs34533941
Varsome	rs34533941
LitVar	rs34533941
Map	rs34533941
PheGenI	rs34533941
Biobank	rs34533941
1000 genomes	rs34533941
hgdp	rs34533941
ensembl	rs34533941
geneview	rs34533941
scholar	rs34533941
google	rs34533941
pharmgkb	rs34533941
gwascentral	rs34533941
openSNP	rs34533941
23andMe	rs34533941
SNPshot	rs34533941
SNPdbe	rs34533941
MSV3d	rs34533941
GWAS Ctlg	rs34533941

Max Magnitude

0

OMIM	141900
Desc
Variant	0505
Related	also

ClinVar
Risk	rs34533941(TG;TG)
Alt	rs34533941(TG;TG)
Reference	Rs34533941(-;-)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5247838_5247839insCA
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016685.26,

[PMID 2310835] A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype.