rs765371999, CLCN2

N. diseases: 2
Disease: Multiple Chronic Conditions ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
0.010 GeneticVariation BEFREE Four different mutations were identified in CYP27A1, including a reported pathogenic mutation for cerebrotendinous xanthomatosis (p.R405W), which was observed in six patients from a multi-incident family, three diagnosed with MS, two with an undefined neurological disease and one seemingly healthy. 28337550 2017