CRYBB3, crystallin beta B3, 1417

N. diseases: 10; N. variants: 3
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2 ×
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
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
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: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2005 2013