Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C0042571
Disease: Vertigo
Vertigo 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		T 0.700 GeneticVariation CLINVAR