Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779766
rs587779766
AHDC1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		C 0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014