Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs568556987
rs568556987
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 22964162 2012
dbSNP: rs568556987
rs568556987
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		G 0.700 GeneticVariation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769 2011