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chr22_37681711_A_G

chr22:37681711 · GRCh38AGrs2899292gnomAD AF 37.6%receptor_confirmed

Regulatory target PDXP-DT is taken from a GTEx liver eQTL, not from distance. For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
0.212GoF
FXR
0.213GoF
AhR
1.000GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 1.000. Impact is at or beyond the receptor-specific p99 reference magnitude.

The p99-scaled score divides the raw delta by the receptor-specific 99th percentile of |delta| in the reference peak population, then clips to −1 to 1. It is a comparable effect scale, not a percentile rank. AhR is exploratory, from a single replicate.

Cross-annotations

GTEx liver eQTL
PDXP-DT, slope 0.57, p 2.8e-13
phyloP conservation
0.30
gnomAD
AF 37.6%
dbSNP
rs2899292
Region tier
receptor_confirmed

Mirrored from ClinVar, GTEx, GWAS Catalog, JASPAR/FIMO, gnomAD and phyloP. See Databases.

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC-0.056-0.0050.018not observed
AG0.2120.2131.00037.6%
AT0.014-0.013-0.031not observed

Every possible base substitution at chr22:37681711, each scored independently and shown as p99-scaled scores. The gnomAD column shows which substitution is actually seen in the population versus in silico only. Region confidence is the same for every substitution at this position, so it is shown once in the section below.

Region confidence

In receptor peaks: PXR