ODAPH
odontogenesis associated phosphoprotein
Summary
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs547884699 | 4:76,479,353 | G/A | — | — |
| rs6847623 | 4:76,480,948 | A/G | — | benign |
| rs6853965 | 4:76,481,051 | T/C | — | benign |
| rs754990168 | 4:76,481,346 | A/T | — | likely benign |
| rs17214357 | 4:76,481,497 | G/A | — | benign |
| rs17214392 | 4:76,481,575 | A/C | — | benign |
| rs62318656 | 4:76,481,628 | A/C | — | benign |
| rs17000647 | 4:76,481,730 | C/T | — | — |
| rs2476333978 | 4:76,481,804 | T/G | — | likely benign |
| rs1560562630 | 4:76,489,322 | A/T | — | pathogenic |
| rs2306175 | 4:76,489,345 | C/T | — | benign |
| rs143319706 | 4:76,489,374 | G/T | — | likely benign |
| rs1560562738 | 4:76,489,385 | C/A | — | pathogenic |
| rs769319224 | 4:76,489,448 | C/T | — | uncertain significance |
| rs866941536 | 4:76,489,485 | C/T | — | pathogenic |
| rs140756390 | 4:76,489,533 | T/C | — | benign |
| rs146645381 | 4:76,489,574 | G/A | missense variant | pathogenic |
| rs2306174 | 4:76,489,582 | G/A | — | benign |
| rs188735683 | 4:76,489,722 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.