SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Disease: Myasthenic Syndromes, Congenital ×
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: rs1259002559
rs1259002559 		0.925 0.120 2 108006095 missense variant C/T snv 4.0E-06
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019