rs1131691804, FBN1

N. diseases: 8
Disease: Acromicric Dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acromicric Dysplasia
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