rs63750954

Orientation

minus

Stabilized

minus

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

Make rs63750954(A;G)

Make rs63750954(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225486

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750954
dbSNP (classic)	rs63750954
ClinGen	rs63750954
ebi	rs63750954
HLI	rs63750954
Exac	rs63750954
Gnomad	rs63750954
Varsome	rs63750954
LitVar	rs63750954
Map	rs63750954
PheGenI	rs63750954
Biobank	rs63750954
1000 genomes	rs63750954
hgdp	rs63750954
ensembl	rs63750954
geneview	rs63750954
scholar	rs63750954
google	rs63750954
pharmgkb	rs63750954
gwascentral	rs63750954
openSNP	rs63750954
23andMe	rs63750954
SNPshot	rs63750954
SNPdbe	rs63750954
MSV3d	rs63750954
GWAS Ctlg	rs63750954

Max Magnitude

0

OMIM	141900
Desc
Variant	0386
Related	also

ClinVar
Risk	rs63750954(G;G) rs63750954(T;T)
Alt	rs63750954(G;G) rs63750954(T;T)
Reference	Rs63750954(A;A)
Significance	Pathogenic
Disease	Beta-plus-thalassemia
Variation	info
Gene	HBB
CLNDBN	Beta-plus-thalassemia
Reversed	1
HGVS	NC_000011.9:g.5246716T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016734.26,

[PMID 2375910] Two novel polyadenylation mutations leading to beta(+)-thalassemia.