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: 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: 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: 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
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C 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 0.010 1.000 1 2003 2003
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: 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: 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: 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: rs139750142
rs139750142 		0.925 0.200 11 111910446 missense variant G/A;T snv 9.5E-05; 4.0E-06 6.3E-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 2020 2020
dbSNP: rs139750142
rs139750142 		0.925 0.200 11 111910446 missense variant G/A;T snv 9.5E-05; 4.0E-06 6.3E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2020 2020
dbSNP: rs14133
rs14133 		0.807 0.200 11 111911973 5 prime UTR variant G/C snv 0.27
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs14133
rs14133 		0.807 0.200 11 111911973 5 prime UTR variant G/C snv 0.27
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs14133
rs14133 		0.807 0.200 11 111911973 5 prime UTR variant G/C snv 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs14133
rs14133 		0.807 0.200 11 111911973 5 prime UTR variant G/C snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012