Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853248
rs137853248
HSPG2
0.800 GeneticVariation UNIPROT Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). 11101850

2000
dbSNP: rs137853248
rs137853248
HSPG2
T 0.800 CausalMutation CLINVAR