Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569285562
rs1569285562
KDM5C
C 0.700 GeneticVariation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439

2015
dbSNP: rs1569285562
rs1569285562
KDM5C
C 0.700 GeneticVariation CLINVAR A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. 22326837

2012