DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: beta Thalassemia ×

Variant: rs33935445 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs33935445

rs33935445

HBB

CUI:	C0005283
Disease:	beta Thalassemia

beta Thalassemia

0.010

GeneticVariation

BEFREE

Thalassemia intermedia caused by heterozygosity for both beta-thalassemia and hemoglobin Saki [beta 14 (A11) Leu replaced by Pro].

1976