FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Acromicric Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691804
rs1131691804
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0265287
Disease:
Acromicric Dysplasia 		0.010 GeneticVariation BEFREE Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 27245183 2016