Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa
0.010 GeneticVariation BEFREE We found upregulation of the RHO promoter by p.M96T protein similar to that shown by other missense NRL mutations that cause adRP. 21981118 2012