Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312693
rs869312693
DYNC1H1
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869312693
rs869312693
DYNC1H1
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869312693
rs869312693
DYNC1H1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR