Gene: GUCY2D ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61750168
rs61750168
GUCY2D
0.710 GeneticVariation BEFREE Three of the 5 patients harbor the Arg768Trp mutation reported in GUCY2D-associated Leber congenital amaurosis. 29559409

2018
dbSNP: rs1555635925
rs1555635925
GUCY2D
CCGTGCTCT 0.700 GeneticVariation CLINVAR

dbSNP: rs386834239
rs386834239
GUCY2D
GCAAC 0.700 CausalMutation CLINVAR

dbSNP: rs61749670
rs61749670
GUCY2D
A 0.700 GeneticVariation CLINVAR

dbSNP: rs750889782
rs750889782
GUCY2D
A 0.700 CausalMutation CLINVAR

dbSNP: rs61749675
rs61749675
GUCY2D
0.010 GeneticVariation BEFREE The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. 17389517

2007