Disease: Primary Ciliary Dyskinesia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary Ciliary Dyskinesia
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
0.010 GeneticVariation BEFREE Concerning the PCD causing variant (rs72552725:A > G) in the SLC22A5 gene we observe full genotype concordance between DBS and WB for all three samples. 30765883 2019