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Gene entry

SMARCAL1

SNF2 related chromatin remodeling annealing helicase 1

Chromosome
2
Cytoband
2q35
Variants (rsID)
16

SMARCAL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q35). Its official name is “SNF2 related chromatin remodeling annealing helicase 1”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs2271335Benignsingle nucleotide variantSchimke immuno-osseous dysplasia
  • rs35907255Benignsingle nucleotide variantSchimke immuno-osseous dysplasia
  • rs2066520Conflicting interpretationssingle nucleotide variantSchimke immuno-osseous dysplasia
  • rs119473033Pathogenicsingle nucleotide variantSchimke immuno-osseous dysplasia|9 conditions|Nephrotic syndrome
  • rs119473037Pathogenicsingle nucleotide variantSchimke immuno-osseous dysplasia
  • rs119473038Pathogenicsingle nucleotide variantSchimke immuno-osseous dysplasia|Nephrotic syndrome
  • rs267607071Pathogenicsingle nucleotide variantSchimke immuno-osseous dysplasia
  • rs199876834Uncertain significancesingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.