Variant Description: |
rsID | dbSNP Accession ID (rsID) | Optional | The SNP’s rs ID. This column also contains HLA alleles in the standard notation (e.g. HLA-DQA1*0102) that aren’t always provided with chromosomal positions. |
- chr_name | Location - Chromosome | Required | Chromosome name/number associated with the variant |
- chr_position | Location within the Chromosome | Required | Chromosomal position associated with the variant |
- effect_allele | Effect Allele | Required | The allele that's dosage is counted (e.g. {0, 1, 2}) and multiplied by the variant's weight (effect_weight) when calculating score. The effect allele is also known as the 'risk allele'. |
- other_allele | Other allele(s) | Recommended | The other allele(s) at the loci |
+ chr_name | Location - Chromosome | Required | Chromosome name/number associated with the variant. |
+ chr_position | Location within the Chromosome | Required | Chromosomal position associated with the variant. |
+ effect_allele | Effect Allele | Required | The allele that's dosage is counted (e.g. {0, 1, 2}) and multiplied by the variant's weight (effect_weight) when calculating score. The effect allele is also known as the 'risk allele'. Note: this does not necessarily need to correspond to the minor allele/alternative allele. |
+ other_allele | Other allele(s) | Recommended | The other allele(s) at the loci. Note: this does not necessarily need to correspond to the reference allele. |
locus_name | Locus Name | Optional | This is kept in for loci where the variant may be referenced by the gene (APOE e4). It is also common (usually in smaller PGS) to see the variants named according to the genes they impact. |
is_haplotype is_diplotype | FLAG: Haplotype or Diplotype | Optional | This is a TRUE/FALSE variable that flags whether the effect allele is a haplotype/diplotype rather than a single SNP. Constituent SNPs in the haplotype are semi-colon separated. |
imputation_method | Imputation Method | Optional | This described whether the variant was specifically called with a specific imputation or variant calling method. This is mostly kept to describe HLA-genotyping methods (e.g. flag SNP2HLA, HLA*IMP) that gives alleles that are not referenced by genomic position. |