Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307095
rs1085307095
SLC7A9
C 0.700 GeneticVariation CLINVAR New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077

2005
dbSNP: rs1085307095
rs1085307095
SLC7A9
C 0.700 GeneticVariation CLINVAR Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping. 15670723

2005