rs63750475

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(I;I)	0

Make rs63750475(-;-)

Make rs63750475(-;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5227018

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750475
dbSNP (classic)	rs63750475
ClinGen	rs63750475
ebi	rs63750475
HLI	rs63750475
Exac	rs63750475
Gnomad	rs63750475
Varsome	rs63750475
LitVar	rs63750475
Map	rs63750475
PheGenI	rs63750475
Biobank	rs63750475
1000 genomes	rs63750475
hgdp	rs63750475
ensembl	rs63750475
geneview	rs63750475
scholar	rs63750475
google	rs63750475
pharmgkb	rs63750475
gwascentral	rs63750475
openSNP	rs63750475
23andMe	rs63750475
SNPshot	rs63750475
SNPdbe	rs63750475
MSV3d	rs63750475
GWAS Ctlg	rs63750475

Max Magnitude

0

OMIM	141900
Desc
Variant	0419
Related	also

ClinVar
Risk	rs63750475(-;-)
Alt	rs63750475(-;-)
Reference	Rs63750475(G;G)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248248delC
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016770.26,

[PMID 1734721] Molecular characterization of beta-thalassemia in the Sardinian population.