FN1, fibronectin 1, 2335

N. diseases: 724; N. variants: 33
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553659131
rs1553659131
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0432221
Disease:
Spondylometaphyseal dysplasia, 'corner fracture' type 		C 0.800 GeneticVariation CLINVAR "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
dbSNP: rs1553659131
rs1553659131
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0432221
Disease:
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.800 GeneticVariation UNIPROT "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
dbSNP: rs1553659131
rs1553659131
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0432221
Disease:
Spondylometaphyseal dysplasia, 'corner fracture' type 		C 0.800 CausalMutation CLINVAR