rs121434341, CHD7

N. diseases: 2
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
0.810 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
Anastomosis
CUI: C0332853
Disease: Anastomosis
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