variants
Identifier
Section titled “Identifier”Description
Section titled “Description”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).
Partitions
Section titled “Partitions”chromosome'1''10''11''12''13''14''15''16''17''18''19''2''20''21''22''3''4''5''6''7''8''9''X'
Schema
Section titled “Schema”| 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. |