rs63750099

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GACCCAG;GACCCAG)	0	common in clinvar

Make rs63750099(-;-)

Make rs63750099(-;GACCCAG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226772

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750099
dbSNP (classic)	rs63750099
ClinGen	rs63750099
ebi	rs63750099
HLI	rs63750099
Exac	rs63750099
Gnomad	rs63750099
Varsome	rs63750099
LitVar	rs63750099
Map	rs63750099
PheGenI	rs63750099
Biobank	rs63750099
1000 genomes	rs63750099
hgdp	rs63750099
ensembl	rs63750099
geneview	rs63750099
scholar	rs63750099
google	rs63750099
pharmgkb	rs63750099
gwascentral	rs63750099
openSNP	rs63750099
23andMe	rs63750099
SNPshot	rs63750099
SNPdbe	rs63750099
MSV3d	rs63750099
GWAS Ctlg	rs63750099

Max Magnitude

0

OMIM	141900
Desc
Variant	0337
Related	also

ClinVar
Risk	rs63750099(-;-)
Alt	rs63750099(-;-)
Reference	Rs63750099(GACCCAG;GACCCAG)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248002_5248008delCTGGGTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016684.26,

[PMID 2730955] Beta-thalassemia gene analysis in a Turkish family reveals a 7 BP deletion in the coding region.