Gene: SMARCAL1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607071
rs267607071
SMARCAL1
A 0.800 CausalMutation CLINVAR Smarcal1 promotes double-strand-break repair by nonhomologous end-joining. 26089390

2015
dbSNP: rs267607071
rs267607071
SMARCAL1
A 0.800 CausalMutation CLINVAR Identification and characterization of SMARCAL1 protein complexes. 23671665

2013
dbSNP: rs267607071
rs267607071
SMARCAL1
A 0.800 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683

2012
dbSNP: rs267607071
rs267607071
SMARCAL1
A 0.800 CausalMutation CLINVAR The annealing helicase HARP protects stalled replication forks. 19793864

2009
dbSNP: rs267607071
rs267607071
SMARCAL1
A 0.800 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831

2009
dbSNP: rs267607071
rs267607071
SMARCAL1
A 0.800 CausalMutation CLINVAR HARP is an ATP-driven annealing helicase. 18974355

2008
dbSNP: rs267607071
rs267607071
SMARCAL1
A 0.800 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. 28796785

2017
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). 26499378

2015
dbSNP: rs119473037
rs119473037
SMARCAL1
T 0.700 CausalMutation CLINVAR [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]. 25748404

2015
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 Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683

2012
dbSNP: rs119473037
rs119473037
SMARCAL1
T 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
G 0.700 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683

2012
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 21914180

2011
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 SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 19127206

2009
dbSNP: rs119473037
rs119473037
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 Schimke immunoosseous dysplasia: suggestions of genetic diversity. 17089404

2007
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: a clinicopathological correlation. 16840568

2007
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. 15880370

2005
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002
dbSNP: rs119473037
rs119473037
SMARCAL1
T 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002
dbSNP: rs761546902
rs761546902
SMARCAL1
G 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002
dbSNP: rs766291662
rs766291662
SMARCAL1
C 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002