Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557090220
rs1557090220
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 19846429

2010