Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204049
rs118204049
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive
A 0.700 GeneticVariation CLINVAR Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. 18394578 2008
dbSNP: rs118204049
rs118204049
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive
A 0.700 CausalMutation CLINVAR