Disease: Autosomal dominant retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1486286708
rs1486286708
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE Two novel mutations, a Leu227Pro and Lys238Arg, in the IMPDH1 gene were identified in two unrelated families with ADRP. 16038673 2005