Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040958
rs886040958
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040958
rs886040958
ARID1B
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040958
rs886040958
ARID1B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040958
rs886040958
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		A 0.700 CausalMutation CLINVAR