Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727505397
rs727505397
CASK
0.010 GeneticVariation BEFREE Since heterozygosity of other aggregation-inducing mutations (e.g., CASK<sup>W919R</sup>) does not produce MICPCH, we suggest that the G659D mutation produces microcephaly by disrupting the CASK-neurexin interaction. 29426960

2018