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: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs111785373
rs111785373
RBP4 ; FFAR4
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs113331868
rs113331868
CAMK2A
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1553226355
rs1553226355
GNAT2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554122526
rs1554122526
CAMK2A
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		G 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1555955061
rs1555955061
CHM
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555967263
rs1555967263
NYX
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556313474
rs1556313474
RP2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566528711
rs1566528711
GJB2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs200805087
rs200805087
CNGB3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		C 0.700 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582

2004
dbSNP: rs397507517
rs397507517
PTPN11
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397515360
rs397515360
CNGB3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		A 0.700 CausalMutation CLINVAR Genetic basis of total colourblindness among the Pingelapese islanders. 10888875

2000
dbSNP: rs552069173
rs552069173
CNGA3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		A 0.700 GeneticVariation CLINVAR CNGA3 mutations in hereditary cone photoreceptor disorders. 11536077

2001
dbSNP: rs565837539
rs565837539
RPGRIP1
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		A 0.700 GeneticVariation CLINVAR A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 24123792

2013
dbSNP: rs61753219
rs61753219
PEX6
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs63750459
rs63750459
ABCC6
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		A 0.700 GeneticVariation CLINVAR ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. 12673275

2003
dbSNP: rs72664237
rs72664237
ABCC6
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		C 0.700 CausalMutation CLINVAR A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 11536079

2001
dbSNP: rs749036398
rs749036398
CNGA3
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs758291149
rs758291149
IMPG2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 CausalMutation CLINVAR Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 20673862

2010