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: rs3096697
rs3096697
PPT2 ; EGFL8 ; PPT2-EGFL8
3 0.882 0.200 6 32166733 missense variant G/A snv 0.16 0.18 0.700 1.000 1 2011 2011