rs35662066

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	5.5	Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent
(-;C)	3	Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226971

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs35662066
dbSNP (classic)	rs35662066
ClinGen	rs35662066
ebi	rs35662066
HLI	rs35662066
Exac	rs35662066
Gnomad	rs35662066
Varsome	rs35662066
LitVar	rs35662066
Map	rs35662066
PheGenI	rs35662066
Biobank	rs35662066
1000 genomes	rs35662066
hgdp	rs35662066
ensembl	rs35662066
geneview	rs35662066
scholar	rs35662066
google	rs35662066
pharmgkb	rs35662066
gwascentral	rs35662066
openSNP	rs35662066
23andMe	rs35662066
SNPshot	rs35662066
SNPdbe	rs35662066
MSV3d	rs35662066
GWAS Ctlg	rs35662066

Max Magnitude

5.5

ClinVar
Risk	Rs35662066(-;-)
Alt	Rs35662066(-;-)
Reference	Rs35662066(C;C)
Significance	Pathogenic
Disease	beta^0^ Thalassemia Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248201delG
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016670.27, RCV000173145.1,