CRYBB3, crystallin beta B3, 1417

N. diseases: 10; N. variants: 3
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: rs587777601
rs587777601
1.000 0.080 22 25207157 missense variant T/A snv
Cataract, Congenital Nuclear, Autosomal Recessive 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2005 2013
dbSNP: rs74315490
rs74315490
0.925 0.200 22 25207069 missense variant G/A;C snv 2.0E-05; 1.2E-05
Cataract, Congenital Nuclear, Autosomal Recessive 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2005 2013
dbSNP: rs74315490
rs74315490
0.925 0.200 22 25207069 missense variant G/A;C snv 2.0E-05; 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: rs864309700
rs864309700
1.000 0.200 22 25207210 stop lost 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 0.700 1.000 1 2016 2016