Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761546902
rs761546902
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		G 0.700 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683

2012
dbSNP: rs761546902
rs761546902
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		G 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002