CRYGD, crystallin gamma D, 1421

N. diseases: 168; N. variants: 18
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: rs121909598
rs121909598 		0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.700 0
dbSNP: rs398122948
rs398122948 		1.000 2 208121796 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.700 0
dbSNP: rs764945940
rs764945940 		2 208121723 frameshift variant C/-;CC delins
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
CATARACT, CRYSTALLINE ACULEIFORM 		Eye Diseases 0.700 0
dbSNP: rs121909596
rs121909596 		0.925 0.040 2 208124188 missense variant C/T snv
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
CATARACT, CRYSTALLINE ACULEIFORM 		Eye Diseases 0.700 1.000 1 1999 1999
dbSNP: rs864309701
rs864309701 		1.000 0.200 2 208121749 frameshift variant -/C delins
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: rs1178386081
rs1178386081 		1.000 0.040 2 208124206 missense variant C/G;T snv 4.0E-06
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121909595
rs121909595 		0.925 0.040 2 208124321 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121909598
rs121909598 		0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121909598
rs121909598 		0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1336687535
rs1336687535 		1.000 2 208121873 frameshift variant A/- del 4.0E-06
CUI: C1392110
Disease: Crystalline cataract
Crystalline cataract 		0.010 1.000 1 2011 2011
dbSNP: rs1463326176
rs1463326176 		0.851 0.200 2 208124291 frameshift variant TGGG/- del
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1463326176
rs1463326176 		0.851 0.200 2 208124291 frameshift variant TGGG/- del
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs150857132
rs150857132 		0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06
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 2011 2011
dbSNP: rs150857132
rs150857132 		0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs150857132
rs150857132 		0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs150857132
rs150857132 		0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs202233735
rs202233735 		1.000 0.200 2 208124196 stop gained G/C;T snv 6.3E-03; 4.0E-06
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 2017 2017
dbSNP: rs28931605
rs28931605 		0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05
CUI: C1832526
Disease: CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs28931605
rs28931605 		0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28931605
rs28931605 		0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs770593386
rs770593386 		1.000 0.200 2 208121797 missense variant T/C snv 8.0E-06 7.0E-06
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 2011 2011
dbSNP: rs773365689
rs773365689 		1.000 0.200 2 208121873 missense variant A/C snv 1.2E-05
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 2011 2011
dbSNP: rs778768887
rs778768887 		1.000 0.040 2 208124472 start lost A/G snv 1.7E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs886055527
rs886055527 		1.000 0.040 2 208121903 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1463326176
rs1463326176 		0.851 0.200 2 208124291 frameshift variant TGGG/- del
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 0.020 1.000 2 2017 2017