Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
A 0.800 CausalMutation CLINVAR Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. 26306921

2015
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
A 0.800 CausalMutation CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277

2014
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
A 0.800 CausalMutation CLINVAR RDH12 retinopathy: novel mutations and phenotypic description. 22065924

2011
dbSNP: rs104894472
rs104894472
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs104894472
rs104894472
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs104894473
rs104894473
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs104894473
rs104894473
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs104894476
rs104894476
GPHN ; ZFYVE26 ; RDH12
0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs104894476
rs104894476
GPHN ; ZFYVE26 ; RDH12
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs28940313
rs28940313
GPHN ; ZFYVE26 ; RDH12
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs28940313
rs28940313
GPHN ; ZFYVE26 ; RDH12
0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs28940314
rs28940314
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs28940314
rs28940314
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
A 0.800 CausalMutation CLINVAR Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
dbSNP: rs104894472
rs104894472
GPHN ; RDH12
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894473
rs104894473
GPHN ; RDH12
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894475
rs104894475
GPHN ; RDH12
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894475
rs104894475
GPHN ; RDH12
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894476
rs104894476
GPHN ; ZFYVE26 ; RDH12
G 0.800 CausalMutation CLINVAR

dbSNP: rs28940313
rs28940313
GPHN ; ZFYVE26 ; RDH12
G 0.800 GeneticVariation CLINVAR

dbSNP: rs28940313
rs28940313
GPHN ; ZFYVE26 ; RDH12
G 0.800 CausalMutation CLINVAR