SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
Disease: Mental Retardation, X-Linked ×
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: rs145438966
rs145438966 		1.000 0.080 X 153694800 missense variant A/G snv 1.6E-03 3.7E-04
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs781899045
rs781899045 		1.000 0.080 X 153695191 missense variant G/A snv 1.4E-05 3.8E-05
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2004 2004