DisGeNET - a database of gene-disease associations

rs3184504, SH2B3;ATXN2

N. diseases: 92

Disease: Tetralogy of Fallot ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Tetralogy of Fallot

CUI:	C0039685
Disease:	Tetralogy of Fallot

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

2013