SLC6A2, solute carrier family 6 member 2, 6530

N. diseases: 41; 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: rs121918126
rs121918126 		0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C1535893
Disease: Orthostatic intolerance
Orthostatic intolerance 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs40434
rs40434 		16 55665613 intron variant A/G snv 0.31
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019