SAMD9 Chromosome 7
Sterile alpha motif domain containing 9
Upload your DNA to see your personal genotypes for variants in SAMD9.
What This Gene Does
This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Sterile alpha motif domain containing
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000205413
Associated Conditions (10)
Inborn genetic diseases
MIRAGE syndrome
SAMD9-related disorder
Monosomy 7 myelodysplasia and leukemia syndrome 2
Normophosphatemic familial tumoral calcinosis
Hereditary cancer
Myelodysplastic syndrome
Intellectual disability
Hereditary cancer-predisposing syndrome
See cases
Key Variants
RS1186536794
Conflicting classifications of pathogenicity
Health Risk
RS1202526326
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1366768986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138478808
Conflicting classifications of pathogenicity
MIRAGE syndrome, SAMD9-related disorder, MIRAGE syndrome
Health Risk
RS1387462152
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139484963
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142611434
Conflicting classifications of pathogenicity
Inborn genetic diseases, SAMD9-related disorder, Monosomy 7 myelodysplasia and leukemia syndrome 2
Health Risk
RS144312575
Conflicting classifications of pathogenicity
Health Risk
RS145665736
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1470207548
Conflicting classifications of pathogenicity
Normophosphatemic familial tumoral calcinosis, Normophosphatemic familial tumoral calcinosis
Health Risk
RS147552284
Conflicting classifications of pathogenicity
Health Risk
RS147587391
Conflicting classifications of pathogenicity
Inborn genetic diseases, SAMD9-related disorder, Inborn genetic diseases
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760747768 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767036832 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767093575 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767270627 | Health Risk | Conflicting classifications of pathogenicity | MIRAGE syndrome, SAMD9-related disorder, MIRAGE syndrome |
| RS767558735 | Health Risk | Conflicting classifications of pathogenicity | Normophosphatemic familial tumoral calcinosis, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIRAGE syndrome |
| RS770339001 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, Inborn genetic diseases |
| RS774344690 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779289964 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SAMD9-related disorder, Inborn genetic diseases |
| RS781518706 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS919288120 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS978197631 | Health Risk | Conflicting classifications of pathogenicity | Normophosphatemic familial tumoral calcinosis, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIRAGE syndrome |
| RS1554337424 | Health Risk | Likely pathogenic | Normophosphatemic familial tumoral calcinosis, Normophosphatemic familial tumoral calcinosis |
| RS1584253388 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS1584254471 | Health Risk | Likely pathogenic | — |
| RS1791570014 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS2116417034 | Health Risk | Likely pathogenic | — |
| RS2116417794 | Health Risk | Likely pathogenic | — |
| RS2116418899 | Health Risk | Likely pathogenic | — |
| RS2535352584 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS2535353132 | Health Risk | Likely pathogenic | Monosomy 7 myelodysplasia and leukemia syndrome 2, Hereditary cancer-predisposing syndrome, Monosomy 7 myelodysplasia and leukemia syndrome 2 |
| RS2535357784 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS2535358325 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS2535358818 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS2535358833 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2535359490 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS2535360971 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2535361498 | Health Risk | Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS767325816 | Health Risk | Likely pathogenic | — |
| RS121918554 | Health Risk | Pathogenic | Normophosphatemic familial tumoral calcinosis, Normophosphatemic familial tumoral calcinosis |
| RS1435946172 | Health Risk | Pathogenic | MIRAGE syndrome, SAMD9-related disorder, MIRAGE syndrome |
| RS1554336981 | Health Risk | Pathogenic | Inborn genetic diseases, MIRAGE syndrome, Inborn genetic diseases |
| RS1584251938 | Health Risk | Pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS1584253343 | Health Risk | Pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS1584254152 | Health Risk | Pathogenic | MIRAGE syndrome, MIRAGE syndrome |
| RS1791586314 | Health Risk | Pathogenic | Monosomy 7 myelodysplasia and leukemia syndrome 2, Monosomy 7 myelodysplasia and leukemia syndrome 2 |
| RS2535354223 | Health Risk | Pathogenic | See cases, See cases |
| RS759775100 | Health Risk | Pathogenic | Monosomy 7 myelodysplasia and leukemia syndrome 2, Monosomy 7 myelodysplasia and leukemia syndrome 2 |
| RS1064795431 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, MIRAGE syndrome, Inborn genetic diseases |
| RS1247438528 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, MIRAGE syndrome, Monosomy 7 myelodysplasia and leukemia syndrome 2 |
| RS1554336974 | Health Risk | Pathogenic/Likely pathogenic | MIRAGE syndrome, MIRAGE syndrome |