Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045140
rs797045140
IQSEC2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 CausalMutation CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290

2016