Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515785
rs397515785
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 12068374

2002