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: rs137853924
rs137853924 		0.851 0.200 2 208128343 missense variant C/A;T snv
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 1.000 7 1999 2012
dbSNP: rs104893618
rs104893618 		0.925 2 208129680 missense variant T/G snv
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.700 1.000 7 1999 2012
dbSNP: rs28931604
rs28931604 		0.925 0.200 2 208128226 missense variant G/A snv 1.6E-03 1.8E-04
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.700 1.000 7 1999 2012
dbSNP: rs1553585262
rs1553585262 		1.000 0.040 2 208128304 frameshift variant -/C delins
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		Eye Diseases 0.700 1.000 2 2009 2017
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: rs104893618
rs104893618 		0.925 2 208129680 missense variant T/G snv
CUI: C4015995
Disease: CATARACT 2, COPPOCK-LIKE
CATARACT 2, COPPOCK-LIKE 		0.700 0
dbSNP: rs398122392
rs398122392 		0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.700 0
dbSNP: rs398122944
rs398122944 		0.851 0.200 2 208128257 stop gained C/G;T snv
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.700 0
dbSNP: rs587778872
rs587778872 		0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs587778872
rs587778872 		0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.700 0
dbSNP: rs137853924
rs137853924 		0.851 0.200 2 208128343 missense variant C/A;T snv
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1040762144
rs1040762144 		1.000 2 208129584 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C1392110
Disease: Crystalline cataract
Crystalline cataract 		0.010 1.000 1 2011 2011
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: rs137853924
rs137853924 		0.851 0.200 2 208128343 missense variant C/A;T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2012 2012
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: rs398122392
rs398122392 		0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs398122392
rs398122392 		0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs398122944
rs398122944 		0.851 0.200 2 208128257 stop gained C/G;T snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2012 2012
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: rs398122944
rs398122944 		0.851 0.200 2 208128257 stop gained C/G;T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587778872
rs587778872 		0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587778872
rs587778872 		0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587778872
rs587778872 		0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2017 2017