Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555859593
rs1555859593
ATP1A3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017