SLC1A3, solute carrier family 1 member 3, 6507

N. diseases: 12; N. variants: 2
Source: CURATED ×
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: rs137852619
rs137852619 		1.000 0.080 5 36679635 missense variant C/G snv
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 2 2005 2010
dbSNP: rs137852620
rs137852620 		0.925 0.080 5 36674080 missense variant T/A;G snv
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0