Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918302
rs121918302
RIMS1
0.810 GeneticVariation BEFREE Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation. 27176872

2017
dbSNP: rs121918302
rs121918302
RIMS1
0.810 GeneticVariation UNIPROT Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 12659814

2003
dbSNP: rs121918302
rs121918302
RIMS1
A 0.810 CausalMutation CLINVAR

dbSNP: rs759999855
rs759999855
RIMS1
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