- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Links exist to PubMed Central article
- Has STOP-Gain (A coding region variation where one allele in the set changes to STOP codon (TER). FxnClass = 41)
- Has reference (A coding region variation where one allele in the set is identical to the reference sequence. FxnCode = 8)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Submitted from a locus-specific database.
- Single base polymorphism SNP