Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555447569
rs1555447569
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130

2017