Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553669703
rs1553669703
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0432221
Disease:
Spondylometaphyseal dysplasia, 'corner fracture' type
A 0.800 GeneticVariation CLINVAR "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
dbSNP: rs1553669703
rs1553669703
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
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: rs1553669703
rs1553669703
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0432221
Disease:
Spondylometaphyseal dysplasia, 'corner fracture' type
A 0.800 CausalMutation CLINVAR