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Gene entry

CHD7

chromodomain helicase DNA binding protein 7

Chromosome
8
Cytoband
8q12.2
Variants (rsID)
74

CHD7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q12.2). Its official name is “chromodomain helicase DNA binding protein 7”. The reference table lists 74 variants (rsID) for this gene.

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Clinically classified variants

40 reference-table entries with clinical significance.

  • rs117506164Benignsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
  • rs142962579Benignsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder|Premature ovarian failure
  • rs187751757Benignsingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association|History of neurodevelopmental disorder
  • rs199614124Benignsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder|Hearing impairment
  • rs201319489Benignsingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association|History of neurodevelopmental disorder
  • rs201653177Benignsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs3763592Benignsingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association
  • rs377662366Benignsingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association|History of neurodevelopmental disorder
  • rs41312170Benignsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
  • rs45521933Benignsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
  • rs71640288Benignsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
  • rs113483301Conflicting interpretationssingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
  • rs114996731Conflicting interpretationssingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs16926453Conflicting interpretationssingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
  • rs202141372Conflicting interpretationssingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs34979623Conflicting interpretationssingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|History of neurodevelopmental disorder
  • rs376063472Conflicting interpretationssingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association
  • rs41265246Conflicting interpretationssingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs528130317Conflicting interpretationssingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs61742801Conflicting interpretationssingle nucleotide variantCHARGE association|History of neurodevelopmental disorder
  • rs61978638Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Hypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association|CHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs751726519Conflicting interpretationssingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association
  • rs767368987Conflicting interpretationssingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association
  • rs779615403Conflicting interpretationssingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association
  • rs886063038Conflicting interpretationssingle nucleotide variantHypogonadotropic hypogonadism 5 with or without anosmia
  • rs768184220Likely pathogenicsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs121434338Pathogenicsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association|Hypogonadotropic hypogonadism
  • rs267606724Pathogenicsingle nucleotide variantCHARGE association
  • rs398124321Pathogenicsingle nucleotide variantCHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|Inborn genetic diseases
  • rs587783436PathogenicDeletionCHARGE association
  • rs757160222Pathogenicsingle nucleotide variantCHARGE association
  • rs794727423Pathogenicsingle nucleotide variantCHARGE association|Inborn genetic diseases|CHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia
  • rs864622455PathogenicDeletionCHARGE association
  • rs864622523Pathogenicsingle nucleotide variantCHARGE association
  • rs886040982PathogenicDeletionCHARGE association
  • rs886040983Pathogenicsingle nucleotide variantCHARGE association
  • rs886040991Pathogenicsingle nucleotide variantCHARGE association
  • rs886040995Pathogenicsingle nucleotide variantCHARGE association
  • rs147164392Uncertain significancesingle nucleotide variantCHARGE association
  • rs185150226Uncertain significancesingle nucleotide variantHistory of neurodevelopmental disorder

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.