Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555859157
rs1555859157
ATP1A3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 27091223

2016
dbSNP: rs1555859157
rs1555859157
ATP1A3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR The multiple faces of the ATP1A3-related dystonic movement disorder. 23483595

2013