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: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 4 1998 2012
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: 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: 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: 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: rs144451841
rs144451841 		1.000 0.200 11 111910331 missense variant C/A;T snv 1.2E-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 0.700 1.000 1 2016 2016
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: 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: 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: 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
dbSNP: rs281865141
rs281865141 		0.925 0.080 11 111911665 frameshift variant G/- delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281865142
rs281865142 		0.925 0.080 11 111908949 frameshift variant A/- del 4.0E-06 1.4E-05
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System 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: rs387907338
rs387907338 		0.827 0.200 11 111911559 missense variant G/A;T snv
CUI: C3808377
Disease: CATARACT 16, MULTIPLE TYPES
CATARACT 16, MULTIPLE TYPES 		0.700 0
dbSNP: rs387907339
rs387907339 		0.882 0.280 11 111908967 missense variant C/A;G snv
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 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: 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
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2002 2011
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.030 1.000 3 2005 2014
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.020 1.000 2 2011 2019