Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372054380
rs372054380
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
CUI: C4225227
Disease:
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		0.800 GeneticVariation UNIPROT Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015
dbSNP: rs372054380
rs372054380
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
CUI: C4225227
Disease:
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs200457692
rs200457692
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
CUI: C4225227
Disease:
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		A 0.700 CausalMutation CLINVAR