ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
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: rs778345588
rs778345588
1.000 0.080 1 150558021 stop gained C/T snv 4.1E-06
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013