Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28938473
rs28938473
ABCA4
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61750641
rs61750641
ABCA4
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1554403767
rs1554403767
TSPAN12
C 0.700 CausalMutation CLINVAR

dbSNP: rs1565083843
rs1565083843
LRP5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918542
rs121918542
KCNJ13 ; GIGYF2
0.020 GeneticVariation BEFREE Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy. 23255580

2013
dbSNP: rs121918542
rs121918542
KCNJ13 ; GIGYF2
0.020 GeneticVariation BEFREE These results indicate that the KCNJ13 R162W mutation can cause SVD and further show that vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous. 18179896

2008