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Variant Description: rsIDdbSNP 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_nameLocation - Chromosome Required Chromosome name/number associated with the variant - chr_positionLocation within the ChromosomeRequired Chromosomal position associated with the variant - effect_alleleEffect AlleleRequiredThe 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_alleleOther allele(s)Recommended The other allele(s) at the loci + chr_nameLocation - Chromosome Required Chromosome name/number associated with the variant. + chr_positionLocation within the ChromosomeRequired Chromosomal position associated with the variant. + effect_alleleEffect AlleleRequiredThe 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_alleleOther allele(s)Recommended The other allele(s) at the loci. Note: this does not necessarily need to correspond to the reference allele. locus_nameLocus NameOptionalThis 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_diplotypeFLAG: Haplotype or DiplotypeOptionalThis 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_methodImputation MethodOptionalThis 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.