EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
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: rs1396644
rs1396644
1.000 0.080 6 145407178 intron variant G/A snv 5.2E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009