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variants

ukb_ppp.variants

Variant annotation table with rsIDs and positional mappings across genome builds.

One row per variant tested for any pQTL association.

Always filter on chromosome (partition column).

Query by variant_id to get the rsID and cross-build positions for a pQTL hit.

Query by rsid to find the UKB-PPP variant_id.

Batch lookups: use variant_id IN (...) to get rsIDs for multiple variants in one query.

Optionally filter by in_dbsnp (variant had a match in dbSNP), was_swapped (beta and effect_allele_frequency were inverted during harmonization), or is_palindromic (alleles are A/T or C/G, should be treated with extra caution due to uncertain inference of strand).

Related tables: ukb_ppp.pqtls (join on variant_id); dbsnp.vcf (join on rsid, chromosome).

  • chromosome
    • '1'
    • '10'
    • '11'
    • '12'
    • '13'
    • '14'
    • '15'
    • '16'
    • '17'
    • '18'
    • '19'
    • '2'
    • '20'
    • '21'
    • '22'
    • '3'
    • '4'
    • '5'
    • '6'
    • '7'
    • '8'
    • '9'
    • 'X'
Column Type Description
variant_id TEXT Unique UKB-PPP variant identifier (e.g. 4:180574458:A:G:imp:v1).
rsid TEXT dbSNP rsID (e.g. rs123456). May be null for novel variants.
chromosome TEXT Partition column. Chromosome on which the variant is located.
position_grch37 INT Variant position in assembly GRCh37 coordinates.
position_grch38 INT Variant position in assembly GRCh38 coordinates.
effect_allele TEXT Effect allele of pQTL results. Harmonized to equal the dbSNP alt_allele.
other_allele TEXT Non-effect allele of pQTL results. Harmonized to equal the dbSNP ref_allele.
dbsnp_build TEXT dbSNP build version that the variant was harmonized against (e.g. b157). Null for variants without a dbSNP match.
in_dbsnp BOOLEAN Variant has a match in dbSNP (allowing for swapping of alleles).
is_palindromic BOOLEAN Variant alleles are A/T or C/G. These require specific treatment during harmonization.
was_swapped BOOLEAN Effect and other alleles in the source UKB-PPP pQTL files were in the opposite order from dbSNP REF/ALT (on the aligned strand). When true, beta and effect_allele_frequency were inverted during harmonization.
was_flipped BOOLEAN Source UKB-PPP pQTL files reported the variant on the reverse strand relative to dbSNP; alleles were reverse-complemented during harmonization. Null for variants without a confident strand assignment.