Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs28940314
rs28940314
GPHN ; RDH12
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894470
rs104894470
GPHN ; RDH12
T 0.700 CausalMutation CLINVAR

dbSNP: rs116649873
rs116649873
GPHN ; RDH12
0.700 GeneticVariation UNIPROT

dbSNP: rs116733939
rs116733939
GPHN ; RDH12
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121434337
rs121434337
GPHN ; RDH12
T 0.700 CausalMutation CLINVAR

dbSNP: rs202126574
rs202126574
GPHN ; RDH12
0.700 GeneticVariation UNIPROT

dbSNP: rs387906272
rs387906272
GPHN ; RDH12
A 0.700 CausalMutation CLINVAR

dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
C 0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139

2013
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
C 0.700 CausalMutation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050

2015
dbSNP: rs368489658
rs368489658
GPHN ; RDH12
0.700 GeneticVariation UNIPROT Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. 26124963

2015
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
T 0.700 CausalMutation CLINVAR Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 26355662

2016
dbSNP: rs368489658
rs368489658
GPHN ; RDH12
0.700 GeneticVariation UNIPROT Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 19140180

2009
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: rs1239043055
rs1239043055
GPHN ; ZFYVE26 ; RDH12
T 0.700 GeneticVariation CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277

2014
dbSNP: rs104894471
rs104894471
GPHN ; RDH12
T 0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015
dbSNP: rs794729650
rs794729650
GPHN ; RDH12
C 0.700 GeneticVariation CLINVAR Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 17964524

2007
dbSNP: rs368489658
rs368489658
GPHN ; RDH12
0.700 GeneticVariation UNIPROT Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407

2009
dbSNP: rs104894471
rs104894471
GPHN ; RDH12
T 0.700 CausalMutation CLINVAR Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 29186038

2017