DisGeNET - a database of gene-disease associations

Marfan Syndrome, C0024796

Variant: rs1566888689 ×

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:

rs1566888689

FBN1

0.700

GeneticVariation

CLINVAR

[Clinical and Genetic Characteristics of Russian Marfan Patients].

26410935

2015

dbSNP:

rs1566888689

FBN1

0.700

GeneticVariation

CLINVAR

Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

25101912

2015

dbSNP:

rs1566888689

FBN1

0.700

GeneticVariation

CLINVAR

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

19293843

2009