Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854467
rs137854467
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.010 GeneticVariation BEFREE The mutation c.364C>T can be considered to be a hotspot for Marfan patients with predominant ectopia lentis. 19089573

2009