RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: LEBER CONGENITAL AMAUROSIS 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs971610277
rs971610277
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		A 0.700 GeneticVariation CLINVAR RDH12 retinopathy: novel mutations and phenotypic description. 22065924 2011