CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
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: rs397515625
rs397515625
0.882 0.200 21 43169160 missense variant C/A;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 0.720 1.000 3 2013 2018
dbSNP: rs864309685
rs864309685
1.000 0.200 21 43169241 missense variant T/C;G 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 0.700 1.000 1 2016 2016
dbSNP: rs1114167311
rs1114167311
1.000 0.200 21 43172198 frameshift variant A/- del
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 0
dbSNP: rs397515623
rs397515623
0.925 0.200 21 43169259 missense variant C/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 0.700 0
dbSNP: rs143349894
rs143349894
0.925 0.200 21 43172168 missense variant G/C 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 0.010 1.000 1 2011 2011
dbSNP: rs397515626
rs397515626
0.925 0.200 21 43169161 missense variant G/A 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 0.010 1.000 1 2018 2018
dbSNP: rs7278468
rs7278468
0.882 0.280 21 43168647 upstream gene variant T/A;G 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 2017 2017
dbSNP: rs74315439
rs74315439
0.790 0.200 21 43172104 missense variant C/A;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 0.010 1.000 1 2003 2003
dbSNP: rs756635396
rs756635396
1.000 0.200 21 43170586 missense variant G/A 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 0.010 1.000 1 2013 2013