CRYGC, crystallin gamma C, 1420

N. diseases: 60; 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: rs587778872
rs587778872
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-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 0.700 1.000 1 2016 2016
dbSNP: rs864309689
rs864309689
1.000 0.200 2 208128399 frameshift variant GG/A 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: rs137853924
rs137853924
0.851 0.200 2 208128343 missense variant C/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 2015 2015
dbSNP: rs28931604
rs28931604
0.925 0.200 2 208128226 missense variant G/A snv 1.6E-03 1.8E-04
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 2007 2007
dbSNP: rs376626721
rs376626721
1.000 0.200 2 208128385 missense variant G/A;T snv 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 2003 2003
dbSNP: rs398122944
rs398122944
0.851 0.200 2 208128257 stop gained C/G;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: rs61751949
rs61751949
0.925 0.200 2 208129550 missense variant C/T snv 1.7E-02 1.1E-02
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 2013 2013