SMARCAL1 Chromosome 2
SNF2 related chromatin remodeling annealing helicase 1
Upload your DNA to see your personal genotypes for variants in SMARCAL1.
What This Gene Does
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SNF2 related family
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000138375
Associated Conditions (17)
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Nephrotic syndrome
Inborn genetic diseases
See cases
Focal segmental glomerulosclerosis
Uterine corpus endometrial carcinoma
Inherited Immunodeficiency Diseases
Adrenocortical carcinoma
hereditary
Thymoma
Kidney disorder
Glioma susceptibility 1
Atypical hemolytic-uremic syndrome
9 conditions
Pilocytic astrocytoma
Familial cancer of breast
Key Variants
RS1172616375
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia
Health Risk
RS119473038
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Nephrotic syndrome, Schimke immuno-osseous dysplasia
Health Risk
RS1301876154
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS1322248626
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS138575228
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS138819354
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Inborn genetic diseases, Schimke immuno-osseous dysplasia
Health Risk
RS139445683
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia
Health Risk
RS139872089
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, See cases
Health Risk
RS139949668
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia
Health Risk
RS140370927
Conflicting classifications of pathogenicity
Inborn genetic diseases, Schimke immuno-osseous dysplasia, Inborn genetic diseases
Health Risk
RS1436190761
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS145825654
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757704897 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS758367100 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS759562755 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia |
| RS762653086 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS769875821 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS775057827 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS776290743 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis, Schimke immuno-osseous dysplasia, Focal segmental glomerulosclerosis |
| RS776299636 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Schimke immuno-osseous dysplasia, Inborn genetic diseases |
| RS777273652 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia |
| RS780778758 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS794727171 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS886042157 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS886044051 | Health Risk | Conflicting classifications of pathogenicity | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1057524680 | Health Risk | Likely pathogenic | — |
| RS1057524681 | Health Risk | Likely pathogenic | — |
| RS1248072601 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1367550528 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1384402545 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1553526162 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, See cases, Schimke immuno-osseous dysplasia |
| RS1553526733 | Health Risk | Likely pathogenic | — |
| RS1553535161 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1559138455 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1693994454 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1694062061 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1694331040 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Nephrotic syndrome, Schimke immuno-osseous dysplasia |
| RS1694789584 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Glioma susceptibility 1, Schimke immuno-osseous dysplasia |
| RS1694866812 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS2106040403 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS2106050388 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2469003600 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS2469012467 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS2469036894 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS2469610905 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS2469625446 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS2469625449 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS772028268 | Health Risk | Likely pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1006690042 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS119473033 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, 9 conditions, Nephrotic syndrome |
| RS119473034 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS119473035 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS119473036 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1226835488 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1253749894 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1264577481 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1265248594 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia |
| RS1271242899 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1294139623 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1330853690 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS140515579 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS149425324 | Health Risk | Pathogenic | Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |