SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
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: rs1057517665
rs1057517665 		1.000 10 49611297 missense variant G/C snv
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.800 0
dbSNP: rs1057517666
rs1057517666 		1.000 10 49611932 missense variant G/C snv
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.800 0
dbSNP: rs733722
rs733722 		1.000 0.080 10 49608897 upstream gene variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006