Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518787
rs1057518787
GPR143
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518822
rs1057518822
CEP290
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518836
rs1057518836
NDP ; NDP-AS1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518963
rs1057518963
OPHN1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0028738
Disease: Nystagmus
Nystagmus 		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: rs1064795104
rs1064795104
EXOC6B
CUI: C0028738
Disease: Nystagmus
Nystagmus 		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: rs1085307993
rs1085307993
GABRB2
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167290
rs1114167290
MYO5A
CUI: C0028738
Disease: Nystagmus
Nystagmus 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1114167292
rs1114167292
RUBCN
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1135402761
rs1135402761
SYT1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1217391623
rs1217391623
SPG7
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918358
rs121918358
SPG7
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs1276519904
rs1276519904
H3-3A
CUI: C0028738
Disease: Nystagmus
Nystagmus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852834
rs137852834
CEP290
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137853105
rs137853105
MKS1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		C 0.700 CausalMutation CLINVAR

dbSNP: rs138504221
rs138504221
SGSH
CUI: C0028738
Disease: Nystagmus
Nystagmus 		G 0.700 CausalMutation CLINVAR

dbSNP: rs141659620
rs141659620
SPG7
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs142285818
rs142285818
RHO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		G 0.700 CausalMutation CLINVAR

dbSNP: rs144078282
rs144078282
CLPB
CUI: C0028738
Disease: Nystagmus
Nystagmus 		C 0.700 CausalMutation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
CUI: C0028738
Disease: Nystagmus
Nystagmus 		T 0.700 GeneticVariation CLINVAR