CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
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: rs104893736
rs104893736 		0.827 0.040 3 186539566 missense variant C/A snv
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.800 1.000 1 2005 2005
dbSNP: rs1114167312
rs1114167312 		1.000 0.200 3 186539588 missense variant AG/TT mnv
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 0
dbSNP: rs1184398243
rs1184398243 		1.000 3 186539503 missense variant G/C snv 4.0E-06
CUI: C3805410
Disease: CATARACT 20, MULTIPLE TYPES
CATARACT 20, MULTIPLE TYPES 		0.700 0
dbSNP: rs104893736
rs104893736 		0.827 0.040 3 186539566 missense variant C/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.020 1.000 2 2009 2016
dbSNP: rs104893736
rs104893736 		0.827 0.040 3 186539566 missense variant C/A snv
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893736
rs104893736 		0.827 0.040 3 186539566 missense variant C/A snv
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs104893736
rs104893736 		0.827 0.040 3 186539566 missense variant C/A snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs143507827
rs143507827 		1.000 0.040 3 186539542 missense variant T/C snv 5.6E-04 2.0E-04
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1483130765
rs1483130765 		0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1483130765
rs1483130765 		0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2016 2016