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: rs2230500
rs2230500
PRKCH
5 0.925 0.080 14 61457521 missense variant G/A snv 3.1E-02 1.6E-02 0.720 1.000 3 2007 2014