DZIP1L Chromosome 3
DAZ interacting zinc finger protein 1 like
Upload your DNA to see your personal genotypes for variants in DZIP1L.
What This Gene Does
Predicted to enable zinc ion binding activity. Involved in cilium assembly and regulation of protein localization. Located in several cellular components, including intercellular bridge; microtubule cytoskeleton; and nucleoplasm. Implicated in polycystic kidney disease 5. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
3q22.3
Ensembl
ENSG00000158163
Associated Conditions (3)
Inborn genetic diseases
Polycystic kidney disease 5
DZIP1L-related disorder
Key Variants
RS138745459
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142726001
Conflicting classifications of pathogenicity
Polycystic kidney disease 5, Polycystic kidney disease 5
Health Risk
RS148698535
Conflicting classifications of pathogenicity
Inborn genetic diseases, DZIP1L-related disorder, Inborn genetic diseases
Health Risk
RS150239870
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199856777
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS747165958
Likely pathogenic
Polycystic kidney disease 5, DZIP1L-related disorder, Polycystic kidney disease 5
Health Risk
RS750579270
Likely pathogenic
Health Risk
RS752577915
Likely pathogenic
Health Risk
RS929750748
Likely pathogenic
Polycystic kidney disease 5, Polycystic kidney disease 5
Health Risk
RS970655990
Likely pathogenic
Polycystic kidney disease 5, Polycystic kidney disease 5
Health Risk
RS1135402754
Pathogenic
Polycystic kidney disease 5, Polycystic kidney disease 5
Health Risk
RS1135402755
Pathogenic
Polycystic kidney disease 5, Polycystic kidney disease 5
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138745459 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142726001 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 5, Polycystic kidney disease 5 |
| RS148698535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DZIP1L-related disorder, Inborn genetic diseases |
| RS150239870 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199856777 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747165958 | Health Risk | Likely pathogenic | Polycystic kidney disease 5, DZIP1L-related disorder, Polycystic kidney disease 5 |
| RS750579270 | Health Risk | Likely pathogenic | — |
| RS752577915 | Health Risk | Likely pathogenic | — |
| RS929750748 | Health Risk | Likely pathogenic | Polycystic kidney disease 5, Polycystic kidney disease 5 |
| RS970655990 | Health Risk | Likely pathogenic | Polycystic kidney disease 5, Polycystic kidney disease 5 |
| RS1135402754 | Health Risk | Pathogenic | Polycystic kidney disease 5, Polycystic kidney disease 5 |
| RS1135402755 | Health Risk | Pathogenic | Polycystic kidney disease 5, Polycystic kidney disease 5 |
| RS1135402756 | Health Risk | Pathogenic | Polycystic kidney disease 5, Polycystic kidney disease 5 |
| RS555349004 | Health Risk | Pathogenic | Polycystic kidney disease 5, Polycystic kidney disease 5 |
| RS749937461 | Health Risk | Pathogenic | — |
| RS768478437 | Health Risk | Pathogenic | — |
| RS779215778 | Health Risk | Pathogenic | — |