Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768012106
rs768012106
CTNNB1
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 GeneticVariation BEFREE We describe heterozygous mutations (c.2142_2157dup [p.His720<sup>∗</sup>] and c.2128C>T [p.Arg710Cys]) in two dominant FEVR-affected families and a de novo mutation (c.1434_1435insC [p.Glu479Argfs<sup>∗</sup>18]) in a simplex case subject. 28575650

2017