Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs191047852
rs191047852
DOCK9
0.020 GeneticVariation BEFREE Based on in vitro results, we demonstrated that c.2262A>C substitution in DOCK9, previously identified in KTCN-affected members of an Ecuadorian family, leads to a splicing aberration. 26641546

2015
dbSNP: rs191047852
rs191047852
DOCK9
0.020 GeneticVariation BEFREE Our results suggest that c.2262A>C (p.Gln754His) mutation in DOCK9 may contribute to the KTCN phenotype in the large KTCN-014 family. 22045297

2012