- SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)
- SNP is Precious (Clinical,Pubmed Cited)
- Provisional Third Party Annotation(TPA)(currently rs from PHARMGKB who will give pheotype data).
- Links exist to PubMed Central article
- In Intron (FxnCode = 6)
- Is Assembly specific. (This bit is 1 if the snp only maps to one assembly.)
- Weight=1. (Weight on NCBI reference assembly.)
- Is Validated. (The snp has 2+ minor allele count based on frequency or genotype data.)
- Marker is on high density genotyping kit (50K density or greater). The snp may have phenotype associations present in dbGaP.
- 1000 Genome Phase 1 ( include June Interim phase 1)
- RS Cluster has TGP Submission as of June 2011 (include all current RS from TGP): VCF - KGPROD
- RS Cluster has none TGP Submission(set VCF OTHERKG).
- Submitted from a locus-specific database.
- Single base polymorphism SNP