Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		A 0.700 GeneticVariation CLINVAR Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 27245183

2016
dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		A 0.700 GeneticVariation CLINVAR Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322

2011
dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C0024433
Disease: Macrostomia
Macrostomia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 GeneticVariation CLINVAR