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: 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: rs202024436
rs202024436 		11 111908969 splice acceptor variant T/C snv 3.6E-05 2.1E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 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: rs387907337
rs387907337 		1.000 11 111911667 missense variant G/A snv
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.700 0
dbSNP: rs397516686
rs397516686 		11 111911722 start lost C/T snv 6.7E-05 2.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1114167341
rs1114167341 		0.882 0.040 11 111908966 missense variant T/C snv
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 1.000 4 2012 2017
dbSNP: rs1114167341
rs1114167341 		0.882 0.040 11 111908966 missense variant T/C snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1114167341
rs1114167341 		0.882 0.040 11 111908966 missense variant T/C snv
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1114167341
rs1114167341 		0.882 0.040 11 111908966 missense variant T/C snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1345627905
rs1345627905 		1.000 0.040 11 111913790 synonymous variant G/A snv 7.0E-06
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs375933774
rs375933774 		0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs375933774
rs375933774 		0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2015 2015
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: rs781902168
rs781902168 		0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs781902168
rs781902168 		0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015
dbSNP: rs781902168
rs781902168 		0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs782809283
rs782809283 		1.000 0.040 11 111911693 missense variant C/T snv 1.8E-05 4.2E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs281865142
rs281865142 		0.925 0.080 11 111908949 frameshift variant A/- del 4.0E-06 1.4E-05
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		0.700 1.000 2 2011 2016
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: rs281865141
rs281865141 		0.925 0.080 11 111911665 frameshift variant G/- delins
CUI: C3151236
Disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 		0.700 0