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chr1_15934609_T_C

chr1:15934609 · GRCh38TCrs751367292gnomAD 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
0.060Neutral
FXR
0.081Neutral
AhR
0.146GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.146. 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

ClinVar
Uncertain significance · Inborn genetic diseases
phyloP conservation
2.55 · conserved
gnomAD
AF <0.001%
dbSNP
rs751367292
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.0230.0430.035not observed
TC0.0600.0810.146<0.001%
TG0.0530.0780.1050.0013%

Every possible base substitution at chr1:15934609, 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