Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773454677
rs773454677
EGFR
0.010 GeneticVariation BEFREE Four potentially pathogenic missense variants in <i>CABLES1</i> were identified, two in young adults (c.532G > A, p.E178K and c.718C > T, p.L240F) and two in children (c.935G > A, p.G312D and c.1388A > G, and p.D463G) with CD; no CNVs were found. 28533356

2017