PRKCH, protein kinase C eta, 5583

N. diseases: 55; N. variants: 11
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: rs2230500
rs2230500
0.925 0.080 14 61457521 missense variant G/A snv 3.1E-02 1.6E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.030 1.000 3 2008 2017