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chr18_23385327_A_G

chr18:23385327 · GRCh38A → GgnomAD AF <0.001%ATAC_only
nearest gene · TMEM241 · within gene

For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
-0.162predicted occupancy decrease
FXR
-0.305predicted occupancy decrease
AhR
-0.209predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.305. Impact is moderate on the receptor-specific p99 scale.

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

No external database record for this variant. It is a scored in silico saturation SNV.

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

Region confidence

In receptor peaks: none