JPH1, junctophilin 1, 56704

N. diseases: 29; N. variants: 4
Disease: Narcolepsy ×
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: rs6983232
rs6983232 		1.000 0.080 8 74307787 intron variant C/A;T snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009