Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0456909
Disease: Blindness
Blindness 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518822
rs1057518822
CEP290
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
CUI: C0456909
Disease: Blindness
Blindness 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs111033272
rs111033272
USH2A
CUI: C0456909
Disease: Blindness
Blindness 		T 0.700 CausalMutation CLINVAR

dbSNP: rs137852834
rs137852834
CEP290
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs142285818
rs142285818
RHO
CUI: C0456909
Disease: Blindness
Blindness 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553348960
rs1553348960
EFEMP1 ; LOC112268416
CUI: C0456909
Disease: Blindness
Blindness 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
CUI: C0456909
Disease: Blindness
Blindness 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs376493409
rs376493409
CEP290
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs539612316
rs539612316
ALMS1
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61750654
rs61750654
ABCA4
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882241
rs730882241
ARV1
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs753611141
rs753611141
PMPCA
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs768643552
rs768643552
PMPCA
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
CUI: C0456909
Disease: Blindness
Blindness 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886043303
rs886043303
CEP290
CUI: C0456909
Disease: Blindness
Blindness 		G 0.700 CausalMutation CLINVAR