COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
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: rs80358191
rs80358191 		0.882 0.080 1 36098318 missense variant G/T snv
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 2 2001 2013
dbSNP: rs80358191
rs80358191 		0.882 0.080 1 36098318 missense variant G/T snv
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2001 2001
dbSNP: rs96067
rs96067 		1 36106319 intron variant G/A snv 0.73
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.800 1.000 1 2013 2013
dbSNP: rs12123086
rs12123086 		1 36126011 upstream gene variant G/A snv 0.11
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs274136
rs274136 		1 36113857 intron variant A/G snv 8.0E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs369487110
rs369487110 		1.000 0.080 1 36098770 missense variant C/G;T snv 4.1E-06; 1.1E-04 4.9E-05
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2001 2001
dbSNP: rs7543855
rs7543855 		1 36108525 intron variant C/T snv 7.9E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs96067
rs96067 		1 36106319 intron variant G/A snv 0.73
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.700 1.000 1 2018 2018
dbSNP: rs145553904
rs145553904 		1.000 0.080 1 36097957 missense variant G/A snv 1.4E-03 1.4E-03
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs199786966
rs199786966 		1.000 0.080 1 36098612 missense variant C/G snv 4.0E-04 3.3E-04
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs201235688
rs201235688 		0.925 0.080 1 36098380 missense variant C/A;T snv 1.2E-03
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs727504229
rs727504229 		0.925 0.080 1 36098317 missense variant TG/AC mnv
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs75864656
rs75864656 		0.925 0.080 1 36099217 missense variant C/G;T snv 7.4E-06; 2.6E-02
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2004 2006
dbSNP: rs80358191
rs80358191 		0.882 0.080 1 36098318 missense variant G/T snv
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2009 2012
dbSNP: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2005 2005
dbSNP: rs117860804
rs117860804 		1.000 0.080 1 36098176 missense variant G/A;C snv 3.0E-02; 1.6E-05
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs201235688
rs201235688 		0.925 0.080 1 36098380 missense variant C/A;T snv 1.2E-03
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs727504229
rs727504229 		0.925 0.080 1 36098317 missense variant TG/AC mnv
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs75864656
rs75864656 		0.925 0.080 1 36099217 missense variant C/G;T snv 7.4E-06; 2.6E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C0474441
Disease: Fine corneal edema
Fine corneal edema 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs80358192
rs80358192 		0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016