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chr9_17134963_G_A

chr9:17134963 · GRCh38GArs1049816280gnomAD AF 0.0053%receptor_confirmed

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

Receptor variant-effect scores

PXR
0.041Neutral
FXR
0.147GoF
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

phyloP conservation
3.40 · conserved
gnomAD
AF 0.0053%
dbSNP
rs1049816280
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0410.1471.0000.0053%
GC0.4820.1660.902not observed
GT0.4800.1410.876not observed

Every possible base substitution at chr9:17134963, 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