Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907082
rs387907082
WDR62
0.010 GeneticVariation BEFREE Here we utilized CRISPR/Cas9 approaches to generate three strains of WDR62 mutant mice; WDR62V66M/V66M and WDR62R439H/R439H mice recapitulate conserved missense mutations found in humans with microcephaly, with the third strain being a null allele (WDR62stop/stop). 31816041

2020