Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

ALMS1

ALMS1 centrosome and basal body associated protein

Chromosome
2
Cytoband
2p13.1
Variants (rsID)
73

ALMS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p13.1). Its official name is “ALMS1 centrosome and basal body associated protein”. The reference table lists 73 variants (rsID) for this gene.

Clinically classified variants

39 reference-table entries with clinical significance.

  • rs1052161Benignsingle nucleotide variantAlstrom syndrome
  • rs1052162Benignsingle nucleotide variantAlstrom syndrome
  • rs11884776Benignsingle nucleotide variantAlstrom syndrome
  • rs142022233Benignsingle nucleotide variantMonogenic diabetes|Alstrom syndrome
  • rs201446579Benignsingle nucleotide variantAlstrom syndrome
  • rs2056486Benignsingle nucleotide variantAlstrom syndrome
  • rs34032338Benignsingle nucleotide variant
  • rs34071195Benignsingle nucleotide variantMonogenic diabetes|Alstrom syndrome
  • rs3813227Benignsingle nucleotide variantAlstrom syndrome
  • rs3820700Benignsingle nucleotide variantAlstrom syndrome
  • rs41291187Benignsingle nucleotide variantMonogenic diabetes|Alstrom syndrome
  • rs45608038Benignsingle nucleotide variantAlstrom syndrome|Monogenic diabetes
  • rs7576245Benignsingle nucleotide variant
  • rs137932254Conflicting interpretationssingle nucleotide variantAlstrom syndrome
  • rs142558799Conflicting interpretationssingle nucleotide variantAlstrom syndrome
  • rs188807564Conflicting interpretationssingle nucleotide variantAlstrom syndrome|Monogenic diabetes
  • rs189032342Conflicting interpretationssingle nucleotide variantAlstrom syndrome|Monogenic diabetes
  • rs193922693Conflicting interpretationssingle nucleotide variantAlstrom syndrome
  • rs199922877Conflicting interpretationssingle nucleotide variantAlstrom syndrome
  • rs200054604Conflicting interpretationssingle nucleotide variantAlstrom syndrome|Monogenic diabetes
  • rs200368564Conflicting interpretationssingle nucleotide variantMonogenic diabetes|Alstrom syndrome
  • rs201478438Conflicting interpretationssingle nucleotide variantAlstrom syndrome
  • rs28730854Conflicting interpretationssingle nucleotide variantAlstrom syndrome|Monogenic diabetes
  • rs58806616Conflicting interpretationssingle nucleotide variantAlstrom syndrome|Monogenic diabetes
  • rs73945001Conflicting interpretationssingle nucleotide variantMonogenic diabetes|Alstrom syndrome
  • rs886038617Conflicting interpretationssingle nucleotide variantAlstrom syndrome
  • rs45445398Likely benignsingle nucleotide variantAlstrom syndrome
  • rs73947814Likely benignsingle nucleotide variant
  • rs398122991PathogenicDuplicationAlstrom syndrome|Retinal dystrophy
  • rs398122992PathogenicDeletionAlstrom syndrome
  • rs398122994PathogenicDeletionAlstrom syndrome
  • rs398122995Pathogenicsingle nucleotide variantAlstrom syndrome
  • rs142904692Uncertain significancesingle nucleotide variantAlstrom syndrome
  • rs188857186Uncertain significancesingle nucleotide variantAlstrom syndrome|Complete trisomy 21 syndrome
  • rs192496253Uncertain significancesingle nucleotide variantAlstrom syndrome
  • rs200378498Uncertain significancesingle nucleotide variantAlstrom syndrome
  • rs200826787Uncertain significancesingle nucleotide variantAlstrom syndrome
  • rs200979896Uncertain significancesingle nucleotide variantAlstrom syndrome
  • rs28730862Uncertain significancesingle nucleotide variantAlstrom 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.