DisGeNET - a database of gene-disease associations

SYNGAP1, synaptic Ras GTPase activating protein 1, 8831

N. diseases: 145; N. variants: 80

Disease: Generalized hypotonia ×

Variant: rs1057518786 ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057518786

rs1057518786

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C1858120
Disease:

Generalized hypotonia

A

0.700

GeneticVariation

CLINVAR