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: rs5030739
rs5030739
ELAC2
8 0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02 0.010 1.000 1 2001 2001