Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518699
rs1057518699
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
A 0.700 GeneticVariation CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016