rs750331613, GRID2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR
Poor speech
CUI: C1848207
Disease: Poor speech
0.700 CausalMutation CLINVAR
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.700 CausalMutation CLINVAR
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
0.700 CausalMutation CLINVAR
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
0.700 CausalMutation CLINVAR