Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555447569
rs1555447569
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0026351
Disease:
Moderate intellectual disability
C 0.700 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130 2017
dbSNP: rs1305542291
rs1305542291
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0026351
Disease:
Moderate intellectual disability
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1395475624
rs1395475624
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0026351
Disease:
Moderate intellectual disability
G 0.700 GeneticVariation CLINVAR