Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		C 0.700 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004