DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Marfan Syndrome ×

Variant: rs1060501040 ×

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:

rs1060501040

rs1060501040

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060501040

rs1060501040

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

C

0.700

GeneticVariation

CLINVAR