rs63751128

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Beta Thalassemia carrier; Hemoglobin beta-plus mutation
(G;G)	4.5	Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225487

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63751128
dbSNP (classic)	rs63751128
ClinGen	rs63751128
ebi	rs63751128
HLI	rs63751128
Exac	rs63751128
Gnomad	rs63751128
Varsome	rs63751128
LitVar	rs63751128
Map	rs63751128
PheGenI	rs63751128
Biobank	rs63751128
1000 genomes	rs63751128
hgdp	rs63751128
ensembl	rs63751128
geneview	rs63751128
scholar	rs63751128
google	rs63751128
pharmgkb	rs63751128
gwascentral	rs63751128
openSNP	rs63751128
23andMe	rs63751128
SNPshot	rs63751128
SNPdbe	rs63751128
MSV3d	rs63751128
GWAS Ctlg	rs63751128

Max Magnitude

4.5

OMIM	141900
Desc
Variant	0399
Related	also

ClinVar
Risk	Rs63751128(G;G)
Alt	Rs63751128(G;G)
Reference	Rs63751128(A;A)
Significance	Pathogenic
Disease	Beta-plus-thalassemia Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	Beta-plus-thalassemia beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5246717T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016748.24, RCV000445654.1,

[PMID 20808897] Disease-associated mutations that alter the RNA structural ensemble.

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