BECN1, beclin 1, 8678

N. diseases: 373; N. variants: 2
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: rs1170668763
rs1170668763 		1.000 0.120 17 42818395 missense variant T/A snv 7.0E-06
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs1202752581
rs1202752581 		0.925 0.040 17 42820818 missense variant C/T snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1202752581
rs1202752581 		0.925 0.040 17 42820818 missense variant C/T snv 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014