CRYBA4, crystallin beta A4, 1413

N. diseases: 20; N. variants: 7
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: rs74315486
rs74315486 		1.000 22 26625603 missense variant T/C snv
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.800 1.000 2 2006 2010
dbSNP: rs74315487
rs74315487 		1.000 22 26625528 missense variant T/C snv
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.800 1.000 2 2006 2010
dbSNP: rs1114167427
rs1114167427 		1.000 22 26625512 missense variant G/T snv
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.700 1.000 2 2006 2010
dbSNP: rs864309682
rs864309682 		1.000 0.200 22 26607953 missense variant C/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 0.700 1.000 1 2016 2016
dbSNP: rs1064793935
rs1064793935 		1.000 22 26616149 frameshift variant C/- delins
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.700 0
dbSNP: rs1114167433
rs1114167433 		0.925 0.200 22 26607934 missense variant G/T snv
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		Eye Diseases 0.020 1.000 2 2011 2013
dbSNP: rs1114167433
rs1114167433 		0.925 0.200 22 26607934 missense variant 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 0.020 1.000 2 2011 2013
dbSNP: rs142869513
rs142869513 		0.925 0.200 22 26623327 stop gained C/G;T snv 4.0E-06; 2.4E-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: rs142869513
rs142869513 		0.925 0.200 22 26623327 stop gained C/G;T snv 4.0E-06; 2.4E-05
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011