Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834124
rs386834124
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. 27844444 2017
dbSNP: rs386834124
rs386834124
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. 26657971 2015
dbSNP: rs386834124
rs386834124
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015