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chr9_34612113_A_G

chr9:34612113 · GRCh38AGrs1305096713gnomAD AF <0.001%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.140LoF
FXR
-0.029Neutral
AhR
0.013Neutral
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -0.140. 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

phyloP conservation
-0.04
gnomAD
AF <0.001%
dbSNP
rs1305096713
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-0.161-0.137-0.261not observed
AG-0.140-0.0290.013<0.001%
AT-0.0080.0380.235not observed

Every possible base substitution at chr9:34612113, 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: AhR