Gene entry
AHI1
Abelson helper integration site 1
- Chromosome
- 6
- Cytoband
- 6q23.3
- Variants (rsID)
- 48
AHI1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q23.3). Its official name is “Abelson helper integration site 1”. The reference table lists 48 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs1052502Benignsingle nucleotide variantJoubert syndrome 3
- rs13312995Benignsingle nucleotide variantJoubert syndrome|Joubert syndrome 1|Joubert syndrome 3
- rs143522987Benignsingle nucleotide variantJoubert syndrome|Joubert syndrome 3
- rs35433555Benignsingle nucleotide variantJoubert syndrome|Joubert syndrome 3
- rs41287054Benignsingle nucleotide variantJoubert syndrome|Joubert syndrome 3
- rs41288015Benignsingle nucleotide variantJoubert syndrome|Joubert syndrome 3
- rs121434351Conflicting interpretationssingle nucleotide variantJoubert syndrome 3|Joubert syndrome|Joubert syndrome with ocular defect
- rs145372075Conflicting interpretationssingle nucleotide variant
- rs183936286Conflicting interpretationssingle nucleotide variantJoubert syndrome|Joubert syndrome 3
- rs201148693Conflicting interpretationssingle nucleotide variantJoubert syndrome|Joubert syndrome 3|Intellectual disability
- rs41288013Conflicting interpretationssingle nucleotide variantJoubert syndrome|Joubert syndrome 3
- rs201391050Pathogenicsingle nucleotide variantJoubert syndrome 3|Retinal dystrophy|Joubert syndrome with ocular defect|Joubert syndrome
- rs372659908Pathogenicsingle nucleotide variantJoubert syndrome 3|Retinitis pigmentosa|Joubert syndrome
- rs863225136PathogenicDuplicationJoubert syndrome 3|Joubert syndrome
- rs863225147Pathogenicsingle nucleotide variantJoubert syndrome 3|Joubert syndrome
Other listed variants
- rs1535436
- rs1547079
- rs2064430
- rs3818290
- rs4896144
- rs7768681
- rs11154801
- rs12111441
- rs12211946
- rs13198972
- rs17064526
- rs72978246
- rs75156711
- rs75233654
- rs75284560
- rs76156981
- rs76816993
- rs77505382
- rs78005878
- rs78335173
- rs79084876
- rs112747841
- rs113954693
- rs117036263
- rs117789174
- rs117913496
- rs117913847
- rs117943896
- rs141380643
- rs150969943
- rs190854744
- rs200355875
- rs201771478
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.