rs63750223

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GC;GC)	0	common in clinvar
(GGTCTATTTTCCCACCCTTAGGCTG;GGTCTATTTTCCCACCCTTAGGCTG)	0	common in clinvar
(I;I)	0

Make rs63750223(-;-)

Make rs63750223(-;GGTCTATTTTCCCACCCTTAGGCTG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226796

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750223
dbSNP (classic)	rs63750223
ClinGen	rs63750223
ebi	rs63750223
HLI	rs63750223
Exac	rs63750223
Gnomad	rs63750223
Varsome	rs63750223
LitVar	rs63750223
Map	rs63750223
PheGenI	rs63750223
Biobank	rs63750223
1000 genomes	rs63750223
hgdp	rs63750223
ensembl	rs63750223
geneview	rs63750223
scholar	rs63750223
google	rs63750223
pharmgkb	rs63750223
gwascentral	rs63750223
openSNP	rs63750223
23andMe	rs63750223
SNPshot	rs63750223
SNPdbe	rs63750223
MSV3d	rs63750223
GWAS Ctlg	rs63750223

Max Magnitude

0

OMIM	141900
Desc
Variant	0352
Related	also

ClinVar
Risk	Rs63750223(GGTCTATTTTCCCACCCTTAGGCTGC;GGTCTATTTTCCCACCCTTAGGCTGC) Rs63750223(C;C)
Alt	Rs63750223(GGTCTATTTTCCCACCCTTAGGCTGC;GGTCTATTTTCCCACCCTTAGGCTGC) Rs63750223(C;C)
Reference	Rs63750223(GGTCTATTTTCCCACCCTTAGGCTG;GGTCTATTTTCCCACCCTTAGGCTG)
Significance	Pathogenic
Disease	beta0^ Thalassemia Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta0^ Thalassemia beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248026_5248050del25
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016700.24, RCV000030009.1,

[PMID 6190800] Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia.