rs63751076

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTT;GGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTT)	0	common in clinvar
(I;I)	0	common genotype
(TT;TT)	0	common in clinvar

Make rs63751076(-;-)

Make rs63751076(-;GGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTT)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226903

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63751076
dbSNP (classic)	rs63751076
ClinGen	rs63751076
ebi	rs63751076
HLI	rs63751076
Exac	rs63751076
Gnomad	rs63751076
Varsome	rs63751076
LitVar	rs63751076
Map	rs63751076
PheGenI	rs63751076
Biobank	rs63751076
1000 genomes	rs63751076
hgdp	rs63751076
ensembl	rs63751076
geneview	rs63751076
scholar	rs63751076
google	rs63751076
pharmgkb	rs63751076
gwascentral	rs63751076
openSNP	rs63751076
23andMe	rs63751076
SNPshot	rs63751076
SNPdbe	rs63751076
MSV3d	rs63751076
GWAS Ctlg	rs63751076

Max Magnitude

0

OMIM	141900
Desc
Variant	0355
Related	also

ClinVar
Risk	rs63751076(-;-)
Alt	rs63751076(-;-)
Reference	Rs63751076(GGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTT;GGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTT)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248133_5248176del44
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016703.24,

[PMID 2753736] Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene.