CRYAB, crystallin alpha B, 1410

N. diseases: 200; N. variants: 30
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: rs370803064
rs370803064 		0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs370803064
rs370803064 		0.925 0.200 11 111908781 missense variant C/T snv 4.0E-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 2017 2017
dbSNP: rs370803064
rs370803064 		0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs141638421
rs141638421 		0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs141638421
rs141638421 		0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs141638421
rs141638421 		0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs141638421
rs141638421 		0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 0
dbSNP: rs1566402514
rs1566402514 		1.000 0.160 11 111908827 frameshift variant AG/- del
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.800 1.000 2 2006 2006
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.020 1.000 2 2010 2017
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C1839615
Disease: X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs150516929
rs150516929 		0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894202
rs104894202 		1.000 0.160 11 111908841 stop gained G/A;C snv
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1566402656
rs1566402656 		1.000 11 111908842 frameshift variant T/- delins
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.700 0
dbSNP: rs387907336
rs387907336 		1.000 11 111908874 missense variant C/T snv
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.700 0
dbSNP: rs1327383479
rs1327383479 		1.000 0.120 11 111908907 missense variant C/T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs534473091
rs534473091 		0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs534473091
rs534473091 		0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0003534
Disease: Aphakia
Aphakia 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs534473091
rs534473091 		0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.060 1.000 6 2005 2019
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.040 1.000 4 2011 2019