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Gene entry

DHCR7

7-dehydrocholesterol reductase

Chromosome
11
Cytoband
11q13.4
Variants (rsID)
36

DHCR7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.4). Its official name is “7-dehydrocholesterol reductase”. The reference table lists 36 variants (rsID) for this gene.

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Clinically classified variants

33 reference-table entries with clinical significance.

  • rs1044535Benignsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs74909468Benignsingle nucleotide variantSmith-Lemli-Opitz syndrome|History of neurodevelopmental disorder
  • rs142808899Conflicting interpretationssingle nucleotide variantSmith-Lemli-Opitz syndrome|See cases
  • rs144562471Conflicting interpretationssingle nucleotide variantSmith-Lemli-Opitz syndrome|History of neurodevelopmental disorder
  • rs146867923Conflicting interpretationssingle nucleotide variantSmith-Lemli-Opitz syndrome|History of neurodevelopmental disorder
  • rs147424205Conflicting interpretationssingle nucleotide variantSmith-Lemli-Opitz syndrome|History of neurodevelopmental disorder
  • rs200334114Conflicting interpretationssingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs201150384Conflicting interpretationssingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs201270451Conflicting interpretationssingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs104886033Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|Inborn genetic diseases
  • rs104886035Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs104894212Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs104894213Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs11555217Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|2-3 toe syndactyly|Elevated 7-dehydrocholesterol|Primary microcephaly|Small for gestational age
  • rs121909764Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs121909765Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs121909767Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs121909768Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs121912195Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs143312232Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|History of neurodevelopmental disorder
  • rs28938174Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs61757582Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|Inborn genetic diseases
  • rs751604696Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|History of neurodevelopmental disorder|Wiedemann-Steiner syndrome
  • rs753960624Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs779709646Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs80338853Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|Abnormality of brain morphology
  • rs80338856Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs80338857Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs80338858Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs80338860Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|Microcephaly
  • rs80338862Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome|History of neurodevelopmental disorder
  • rs80338864Pathogenicsingle nucleotide variantSmith-Lemli-Opitz syndrome
  • rs199506852Uncertain significancesingle nucleotide variantSmith-Lemli-Opitz syndrome

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.