rs35699606

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226994

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs35699606
dbSNP (classic)	rs35699606
ClinGen	rs35699606
ebi	rs35699606
HLI	rs35699606
Exac	rs35699606
Gnomad	rs35699606
Varsome	rs35699606
LitVar	rs35699606
Map	rs35699606
PheGenI	rs35699606
Biobank	rs35699606
1000 genomes	rs35699606
hgdp	rs35699606
ensembl	rs35699606
geneview	rs35699606
scholar	rs35699606
google	rs35699606
pharmgkb	rs35699606
gwascentral	rs35699606
openSNP	rs35699606
23andMe	rs35699606
SNPshot	rs35699606
SNPdbe	rs35699606
MSV3d	rs35699606
GWAS Ctlg	rs35699606

Max Magnitude

5.5

ClinVar
Risk	Rs35699606(G;G)
Alt	Rs35699606(G;G)
Reference	Rs35699606(-;-)
Significance	Pathogenic
Disease	beta^0^ Thalassemia Beta Thalassemia HBB-Related Disorders not provided
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia beta Thalassemia HBB-Related Disorders not provided
Reversed	1
HGVS	NC_000011.9:g.5248225dupC
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016672.27, RCV000029974.3, RCV000368084.1, RCV000479091.1,

[PMID 6714226 ] Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

[PMID 8537236] Beta-thalassemia intermedia in an Indian female with the Hb Hofu [beta 126(H4)Val-->Glu]-beta zero-thalassemia [codons 8/9 (+G)] combination.