Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931605
rs28931605
CRYGD ; LOC100507443
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.720 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs397515625
rs397515625
CRYAA ; LOC107987300
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.720 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs886041410
rs886041410
CRYBB2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.710 CausalMutation CLINVAR

dbSNP: rs1057518878
rs1057518878
MAF ; LOC101928230
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167307
rs1114167307
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167308
rs1114167308
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1114167309
rs1114167309
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1114167310
rs1114167310
GJA8 ; LOC105371229
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167311
rs1114167311
CRYAA ; LOC107987300
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167312
rs1114167312
CRYGS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		TT 0.700 CausalMutation CLINVAR

dbSNP: rs1114167313
rs1114167313
GCNT2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1114167314
rs1114167314
GCNT2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167315
rs1114167315
MIP ; TIMELESS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs111534978
rs111534978
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: rs114638163
rs114638163
MIPEP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016
dbSNP: rs1177898071
rs1177898071
PSMC3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121908096
rs121908096
CYP27A1
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 CausalMutation CLINVAR

dbSNP: rs139353014
rs139353014
CRYGA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 CausalMutation CLINVAR

dbSNP: rs144451841
rs144451841
CRYAB
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: rs147344332
rs147344332
CRYBB2
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: rs1554985722
rs1554985722
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648

2017
dbSNP: rs1568480054
rs1568480054
LIM2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397515623
rs397515623
CRYAA ; LOC107987300
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778872
rs587778872
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