DisGeNET - a database of gene-disease associations

rs1553669703, FN1;LOC105373868

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.

Spondylometaphyseal dysplasia, 'corner fracture' type

CUI:	C0432221
Disease:	Spondylometaphyseal dysplasia, 'corner fracture' type

5

0.925

0.160

2

215434713

missense variant

C/A

snv

0.800

1.000

2017

2017

Strudwick syndrome

CUI:	C0700635
Disease:	Strudwick syndrome

19

0.925

0.160

2

215434713

missense variant

C/A

snv

0.700