Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854480
rs137854480
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.020 GeneticVariation BEFREE We report a recurrent R240C mutation in FBN1 in an autosomal dominant ectopia lentis family. 18079676

2007
dbSNP: rs137854480
rs137854480
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.020 GeneticVariation BEFREE This is the second report of the R240C</span> mutation in association with isolated EL, and supports the existing evidence that the R240C mutation can result in two quite distinct, yet related, phenotypes. 15054843

2004