GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917823
rs121917823 		1.000 0.040 13 20143101 missense variant T/C snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.800 1.000 20 1999 2018
dbSNP: rs121917825
rs121917825 		1.000 0.040 13 20142729 missense variant G/A snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.800 1.000 20 1999 2018
dbSNP: rs121917827
rs121917827 		1.000 0.040 13 20143062 missense variant C/T snv 4.0E-06
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.800 1.000 20 1999 2018
dbSNP: rs140332366
rs140332366 		1.000 0.040 13 20142726 missense variant T/A;C;G snv 4.0E-06
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.800 1.000 20 1999 2018
dbSNP: rs397514703
rs397514703 		1.000 0.040 13 20143284 missense variant C/T snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.800 1.000 20 1999 2018
dbSNP: rs864309691
rs864309691 		0.925 0.200 13 20143113 missense variant G/A snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.800 0
dbSNP: rs1555339539
rs1555339539 		1.000 0.040 13 20143207 missense variant C/T snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.700 1.000 20 1999 2018
dbSNP: rs864309687
rs864309687 		0.925 0.200 13 20143029 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309691
rs864309691 		0.925 0.200 13 20143113 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309694
rs864309694 		1.000 0.200 13 20143282 missense variant C/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1114167307
rs1114167307 		0.851 0.200 13 20143233 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1114167308
rs1114167308 		1.000 0.200 13 20142823 missense variant T/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397514704
rs397514704 		0.925 0.200 13 20142673 missense variant A/T snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.700 0
dbSNP: rs398122937
rs398122937 		0.882 0.040 13 20142862 missense variant C/T snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.700 0
dbSNP: rs864309687
rs864309687 		0.925 0.200 13 20143029 missense variant G/A snv
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		Eye Diseases 0.700 0
dbSNP: rs398122937
rs398122937 		0.882 0.040 13 20142862 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.030 1.000 3 2012 2018
dbSNP: rs398122937
rs398122937 		0.882 0.040 13 20142862 missense variant C/T snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.020 1.000 2 2013 2018
dbSNP: rs1114167307
rs1114167307 		0.851 0.200 13 20143233 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1114167307
rs1114167307 		0.851 0.200 13 20143233 missense variant G/A snv
CUI: C2025392
Disease: Polar cataract
Polar cataract 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1114167307
rs1114167307 		0.851 0.200 13 20143233 missense variant G/A snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397514704
rs397514704 		0.925 0.200 13 20142673 missense variant A/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs531379398
rs531379398 		1.000 0.040 13 20143205 synonymous variant C/T snv 8.0E-04 1.2E-04
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9506430
rs9506430 		1.000 0.040 13 20143604 intron variant C/T snv 0.19
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		Eye Diseases 0.010 1.000 1 2019 2019