ZNF699 Chromosome 19
Zinc finger protein 699
Upload your DNA to see your personal genotypes for variants in ZNF699.
What This Gene Does
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KRAB domain containing"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000196110
Associated Conditions (3)
Diamond-Blackfan anemia
DEGCAGS syndrome
ZNF699-related disorder
Key Variants
RS749115647
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, DEGCAGS syndrome, Diamond-Blackfan anemia
Health Risk
RS2513391862
Likely pathogenic
ZNF699-related disorder, ZNF699-related disorder
Health Risk
RS1366191812
Pathogenic
DEGCAGS syndrome, DEGCAGS syndrome
Health Risk
RS2066284895
Pathogenic
DEGCAGS syndrome, DEGCAGS syndrome
Health Risk
RS2144974768
Pathogenic
DEGCAGS syndrome, DEGCAGS syndrome
Health Risk
RS2144976149
Pathogenic
DEGCAGS syndrome, DEGCAGS syndrome
Health Risk
RS2144980732
Pathogenic
DEGCAGS syndrome, DEGCAGS syndrome
Health Risk
RS2513391263
Pathogenic
DEGCAGS syndrome, DEGCAGS syndrome
Health Risk
RS2513397063
Pathogenic
DEGCAGS syndrome, DEGCAGS syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749115647 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, DEGCAGS syndrome, Diamond-Blackfan anemia |
| RS2513391862 | Health Risk | Likely pathogenic | ZNF699-related disorder, ZNF699-related disorder |
| RS1366191812 | Health Risk | Pathogenic | DEGCAGS syndrome, DEGCAGS syndrome |
| RS2066284895 | Health Risk | Pathogenic | DEGCAGS syndrome, DEGCAGS syndrome |
| RS2144974768 | Health Risk | Pathogenic | DEGCAGS syndrome, DEGCAGS syndrome |
| RS2144976149 | Health Risk | Pathogenic | DEGCAGS syndrome, DEGCAGS syndrome |
| RS2144980732 | Health Risk | Pathogenic | DEGCAGS syndrome, DEGCAGS syndrome |
| RS2513391263 | Health Risk | Pathogenic | DEGCAGS syndrome, DEGCAGS syndrome |
| RS2513397063 | Health Risk | Pathogenic | DEGCAGS syndrome, DEGCAGS syndrome |