Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894914
rs104894914
OPN1MW
0.010 GeneticVariation BEFREE Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients. 25168334

2014
dbSNP: rs1057518787
rs1057518787
GPR143
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518822
rs1057518822
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518836
rs1057518836
NDP ; NDP-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518963
rs1057518963
OPHN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167290
rs1114167290
MYO5A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1114167292
rs1114167292
RUBCN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1135402761
rs1135402761
SYT1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs121434621
rs121434621
OPN1LW
0.010 GeneticVariation BEFREE Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients. 25168334

2014
dbSNP: rs1217391623
rs1217391623
SPG7
T 0.700 CausalMutation CLINVAR

dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121907986
rs121907986
HEXB
0.010 GeneticVariation BEFREE Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus. 24613245

2014
dbSNP: rs121908212
rs121908212
CACNA1A
0.010 GeneticVariation BEFREE Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease. 18670797

2008
dbSNP: rs121918358
rs121918358
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852212
rs137852212
FRMD7
0.010 GeneticVariation BEFREE A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females. 17962394

2008
dbSNP: rs137852834
rs137852834
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853105
rs137853105
MKS1
C 0.700 CausalMutation CLINVAR