BMP1 Chromosome 8
Bone morphogenetic protein 1
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What This Gene Does
This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
"Bone morphogenetic proteins|Astacins"
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000168487
Associated Conditions (6)
Osteogenesis imperfecta type 13
Osteogenesis imperfecta
Inborn genetic diseases
BMP1-related disorder
Sarcoma
Abnormality of the skeletal system
Key Variants
RS116360985
Conflicting classifications of pathogenicity
Health Risk
RS117159093
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
Health Risk
RS1264208772
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
Health Risk
RS140092629
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta type 13
Health Risk
RS140324769
Conflicting classifications of pathogenicity
Inborn genetic diseases, BMP1-related disorder, Inborn genetic diseases
Health Risk
RS144666655
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, BMP1-related disorder, Osteogenesis imperfecta type 13
Health Risk
RS148614326
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS149174555
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, Sarcoma, Osteogenesis imperfecta type 13
Health Risk
RS149176169
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta type 13
Health Risk
RS149426277
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
Health Risk
RS149856199
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS181639729
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta type 13
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116360985 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS117159093 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS1264208772 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS140092629 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta type 13 |
| RS140324769 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, BMP1-related disorder, Inborn genetic diseases |
| RS144666655 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, BMP1-related disorder, Osteogenesis imperfecta type 13 |
| RS148614326 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS149174555 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Sarcoma, Osteogenesis imperfecta type 13 |
| RS149176169 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta type 13 |
| RS149426277 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS149856199 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS181639729 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta type 13 |
| RS200412717 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS200867122 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS201714147 | Health Risk | Conflicting classifications of pathogenicity | BMP1-related disorder, BMP1-related disorder |
| RS367978759 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS369882085 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS370391413 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS371954727 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS373100053 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS374092044 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, BMP1-related disorder, Osteogenesis imperfecta type 13 |
| RS374251317 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374534506 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Inborn genetic diseases, Osteogenesis imperfecta type 13 |
| RS376975956 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, BMP1-related disorder, Osteogenesis imperfecta type 13 |
| RS535986716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Osteogenesis imperfecta type 13, Inborn genetic diseases |
| RS574472338 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta type 13 |
| RS73549580 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Inborn genetic diseases, Osteogenesis imperfecta |
| RS749485360 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS761259265 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS763277589 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS773025752 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS780689541 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 13, Inborn genetic diseases, Osteogenesis imperfecta type 13 |
| RS1828459412 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 13, Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2131855526 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS2131895772 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS2538972305 | Health Risk | Likely pathogenic | — |
| RS2538972306 | Health Risk | Likely pathogenic | — |
| RS2538976137 | Health Risk | Likely pathogenic | — |
| RS2539009952 | Health Risk | Likely pathogenic | — |
| RS2539010215 | Health Risk | Likely pathogenic | — |
| RS2539032716 | Health Risk | Likely pathogenic | — |
| RS398122891 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS754100023 | Health Risk | Likely pathogenic | — |
| RS1035427476 | Health Risk | Pathogenic | — |
| RS1171944003 | Health Risk | Pathogenic | — |
| RS2131830295 | Health Risk | Pathogenic | — |
| RS2538976145 | Health Risk | Pathogenic | — |
| RS2538985436 | Health Risk | Pathogenic | — |
| RS2538985731 | Health Risk | Pathogenic | — |
| RS2539016251 | Health Risk | Pathogenic | — |