Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434341
rs121434341
CHD7
0.010 GeneticVariation BEFREE The CHARGE syndrome associated with the R2319C mutation in the CHD7 gene comprised: cystic spaces in the colobomatous optic disc and intrapapillary arterio-venous anastomoses. 18484313

2008