Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs776058639
rs776058639
OPTN
3 0.925 0.080 10 13112564 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2012 2012