This type is intended to store the results of a genetic SNP test. If you want to know more about what a SNP is, I recommend reading the NCBI primer.
The data stored in this type is fairly simple – a small amount of metadata, and then a large list of results.
| Element | Type | Occurrence | Description |
| when | approx-date-time | 1 | The date and time of the test |
| genome-build | string | 1 | The genome build that defines the SNPs. Example: NCBI Build 36.3 |
| chromosone | string | 1 | The chromosone on which the SNPs are located. Examples: 1, 22, X, MT |
The SNP results are stored in the other data portion of the instance, in comma-separated format. Each SNP is encoded as follows:
[refSNP id],[strand orientation],[result]
Where:
- refSNP id: identifier from NCBI dbSNP database
- strand orientation: "+" encodes top, "-" encodes bottom.
- result: the result of the test
Example:
rs1891906,-,GT
Any comments on this type should be made in the following data type forum post.