Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PREMATURE CENTROMERE DIVISION
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
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