SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147656110
rs147656110
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
CUI: C4310694
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		A 0.800 CausalMutation CLINVAR
dbSNP: rs147656110
rs147656110
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
CUI: C4310694
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.800 GeneticVariation UNIPROT