FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111401431
rs111401431
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0265287
Disease:
Acromicric Dysplasia
A 0.700 CausalMutation CLINVAR