Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200079802
rs200079802
Entrez Id: 8669;80208
Gene Symbol: EIF3J;SPG11
EIF3J;SPG11
CUI: C1858479
Disease:
Spastic paraplegia 11, autosomal recessive 		G 0.700 GeneticVariation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
dbSNP: rs200079802
rs200079802
Entrez Id: 8669;80208
Gene Symbol: EIF3J;SPG11
EIF3J;SPG11
CUI: C1858479
Disease:
Spastic paraplegia 11, autosomal recessive 		G 0.700 CausalMutation CLINVAR
dbSNP: rs312262792
rs312262792
Entrez Id: 8669;80208
Gene Symbol: EIF3J;SPG11
EIF3J;SPG11
CUI: C1858479
Disease:
Spastic paraplegia 11, autosomal recessive 		GTTGT 0.700 CausalMutation CLINVAR