Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
FGFR3
0.020 GeneticVariation BEFREE Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. 27485793

2017
dbSNP: rs28933068
rs28933068
FGFR3
0.020 GeneticVariation BEFREE The authors describe a child who has hypochondroplasia due to an N540K mutation and who has medial temporal lobe dysgenesis. 17621485

2007