DisGeNET - a database of gene-disease associations

Hemoglobinopathies, C0019045

Variant: rs63750513 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750513

HBB

0.700

CausalMutation

CLINVAR

Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population.

27828729

2017

dbSNP:

rs63750513

HBB

0.700

CausalMutation

CLINVAR

Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.

19486366

2010

dbSNP:

rs63750513

HBB

0.700

CausalMutation

CLINVAR

The molecular basis for the thalassaemias in Sri Lanka.

12752111

2003