Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1395219766
rs1395219766
ADAMTSL2
0.700 GeneticVariation UNIPROT Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 21415077

2011
dbSNP: rs1395219766
rs1395219766
ADAMTSL2
0.700 GeneticVariation UNIPROT ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 18677313

2008