Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 24589093

2014
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831

2009
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002