SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
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: rs1557045296
rs1557045296
1.000 X 153693971 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs122453114
rs122453114
1.000 0.120 X 153693586 missense variant G/C snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs868950793
rs868950793
X 153688666 missense variant C/A;G;T snv 1.6E-05; 3.3E-05 3.9E-05
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019