Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853248
rs137853248
HSPG2
0.020 GeneticVariation BEFREE We used homologous recombination to generate a knock-in mouse strain with one missense substitution, corresponding to a human familial SJS mutation (p.C1532Y), in the perlecan gene. 18647752

2008
dbSNP: rs137853248
rs137853248
HSPG2
0.020 GeneticVariation BEFREE In contrast, C1532Y mice, harboring only the mutation associated with SJS, displayed a mild phenotype, inconsistent with SJS. 17213231

2007