DisGeNET - a database of gene-disease associations

rs137854457, FBN1

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Marfan Syndrome

CUI:	C0024796
Disease:	Marfan Syndrome

1012

0.925

0.160

15

48428423

missense variant

C/G;T

snv

0.800

1.000

1993

2017

MARFAN SYNDROME, MILD VARIABLE

CUI:	C4016053
Disease:	MARFAN SYNDROME, MILD VARIABLE

1

0.925

0.160

15

48428423

missense variant

C/G;T

snv

0.700