rs63750532

Orientation

minus

Stabilized

minus

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

Make rs63750532(-;-)

Make rs63750532(-;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226780

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750532
dbSNP (classic)	rs63750532
ClinGen	rs63750532
ebi	rs63750532
HLI	rs63750532
Exac	rs63750532
Gnomad	rs63750532
Varsome	rs63750532
LitVar	rs63750532
Map	rs63750532
PheGenI	rs63750532
Biobank	rs63750532
1000 genomes	rs63750532
hgdp	rs63750532
ensembl	rs63750532
geneview	rs63750532
scholar	rs63750532
google	rs63750532
pharmgkb	rs63750532
gwascentral	rs63750532
openSNP	rs63750532
23andMe	rs63750532
SNPshot	rs63750532
SNPdbe	rs63750532
MSV3d	rs63750532
GWAS Ctlg	rs63750532

Max Magnitude

0

OMIM	141900
Desc
Variant	0341
Related	also

ClinVar
Risk	rs63750532(-;-)
Alt	rs63750532(-;-)
Reference	Rs63750532(T;T)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248010delA
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016688.27,

[PMID 2197725] The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

[PMID 1986379] Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.