Disease: Cone-Rod Dystrophy 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759999855
rs759999855
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
CUI: C1863634
Disease:
Cone-Rod Dystrophy 7 		0.010 GeneticVariation BEFREE To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1. 15665353 2005