GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Cataract, Zonular Pulverulent 3 ×
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: 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