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chr17_1268422_C_G

chr17:1268422 · GRCh38C → GgnomAD AF 0.0066%ATAC_only
nearest gene · BHLHA9 · 2.0 kb

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

Receptor variant-effect scores

PXR
0.245GoF
FXR
0.105GoF
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

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