SAMD11 Chromosome 1
Sterile alpha motif domain containing 11
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What This Gene Does
Predicted to enable several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and retinal rod cell development. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
Sterile alpha motif domain containing
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000187634
Associated Conditions (1)
SAMD11-related disorder
Key Variants
RS112419559
Conflicting classifications of pathogenicity
Health Risk
RS146327803
Conflicting classifications of pathogenicity
SAMD11-related disorder, SAMD11-related disorder
Health Risk
RS200099017
Conflicting classifications of pathogenicity
Health Risk
RS368250686
Conflicting classifications of pathogenicity
Health Risk
RS374426973
Conflicting classifications of pathogenicity
Health Risk
RS377365499
Conflicting classifications of pathogenicity
Health Risk
RS377367586
Conflicting classifications of pathogenicity
Health Risk
RS571654307
Conflicting classifications of pathogenicity
Health Risk
RS766527634
Conflicting classifications of pathogenicity
Health Risk
RS779619427
Conflicting classifications of pathogenicity
Health Risk
RS899747870
Conflicting classifications of pathogenicity
Health Risk
RS761448939
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112419559 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146327803 | Health Risk | Conflicting classifications of pathogenicity | SAMD11-related disorder, SAMD11-related disorder |
| RS200099017 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368250686 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374426973 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377365499 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377367586 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571654307 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766527634 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779619427 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS899747870 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761448939 | Health Risk | Pathogenic | — |