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: rs121918355
rs121918355
0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011