ZNF687 Chromosome 1
Zinc finger protein 687
Upload your DNA to see your personal genotypes for variants in ZNF687.
What This Gene Does
This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143373
Associated Conditions (2)
Paget disease of bone 6
ZNF687-related disorder
Key Variants
RS1034532622
Conflicting classifications of pathogenicity
Health Risk
RS144644921
Conflicting classifications of pathogenicity
Health Risk
RS148402804
Conflicting classifications of pathogenicity
Paget disease of bone 6, Paget disease of bone 6
Health Risk
RS201848852
Conflicting classifications of pathogenicity
Health Risk
RS202109433
Conflicting classifications of pathogenicity
Paget disease of bone 6, Paget disease of bone 6
Health Risk
RS61739618
Conflicting classifications of pathogenicity
ZNF687-related disorder, ZNF687-related disorder
Health Risk
RS763426689
Conflicting classifications of pathogenicity
Health Risk
RS770670817
Conflicting classifications of pathogenicity
Paget disease of bone 6, Paget disease of bone 6
Health Risk
RS771386501
Conflicting classifications of pathogenicity
Health Risk
RS869025582
Pathogenic
Paget disease of bone 6, Paget disease of bone 6
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1034532622 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144644921 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148402804 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 6, Paget disease of bone 6 |
| RS201848852 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202109433 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 6, Paget disease of bone 6 |
| RS61739618 | Health Risk | Conflicting classifications of pathogenicity | ZNF687-related disorder, ZNF687-related disorder |
| RS763426689 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770670817 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 6, Paget disease of bone 6 |
| RS771386501 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS869025582 | Health Risk | Pathogenic | Paget disease of bone 6, Paget disease of bone 6 |