BFSP1, beaded filament structural protein 1, 631

N. diseases: 16; N. variants: 1
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: rs1085307126
rs1085307126 		0.925 0.200 20 17496938 missense variant C/A;T snv
CUI: C3808107
Disease: CATARACT 33, MULTIPLE TYPES
CATARACT 33, MULTIPLE TYPES 		0.700 1.000 3 2007 2017
dbSNP: rs1085307126
rs1085307126 		0.925 0.200 20 17496938 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 2013 2013