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

2004
dbSNP: rs878853341
rs878853341
GPHN ; RDH12
A 0.700 GeneticVariation CLINVAR