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chr18_23422811_C_G

chr18:23422811 · GRCh38C → GgnomAD AF 0.017%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
-0.136predicted occupancy decrease
FXR
-0.046small predicted occupancy change
AhR
0.006small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy decrease at p99-scaled -0.136. Impact is small 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