Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781939614
rs781939614
PEX11B
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs781984979
rs781984979
PEX11B
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs79006549
rs79006549
NECTIN3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs796051881
rs796051881
PEX5
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 CausalMutation CLINVAR

dbSNP: rs864309531
rs864309531
SMARCAL1
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 CausalMutation CLINVAR

dbSNP: rs864309532
rs864309532
PHF6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs864309677
rs864309677
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309678
rs864309678
MAF ; LOC101928230
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309679
rs864309679
NHS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309680
rs864309680
BCOR
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309681
rs864309681
PAX6 ; ELP4
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309682
rs864309682
CRYBA4 ; CRYBB1
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309683
rs864309683
CRYBB2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309684
rs864309684
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		CT 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309685
rs864309685
CRYAA ; LOC107987300
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309686
rs864309686
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309687
rs864309687
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309688
rs864309688
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309689
rs864309689
CRYGC ; LOC100507443
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309690
rs864309690
VIM ; VIM-AS1
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309691
rs864309691
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309692
rs864309692
MAF ; LOC101928230
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309693
rs864309693
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309694
rs864309694
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016