CRYGD, crystallin gamma D, 1421

N. diseases: 168; N. variants: 18
Disease: Congenital cataract ×
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: rs28931605
rs28931605 		0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-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 0.720 1.000 3 2016 2017
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: 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
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: 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: 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