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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-7171
Allele Number-152310152310
Allele Frequency-0.00046620.0004662
Grpmax Filtering AF
(95% confidence)
-0.008022
East Asian
0.008022
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

53518800.01022
12482400.002488
2211200.0009470
31530600.0001960
16802800.00001470
04156400.000
0347000.000
01061200.000
029400.000
091200.000
XX307783400.0003854
XY417447600.0005505
Total7115231000.0004662
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 4 transcripts in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. intron

    1. TRPV4

      1. ENST00000261740.7
        MANE Select transcript for TRPV4
        HGVSc
        c.-31-1272C>T
      2. ENST00000675670.1
        HGVSc
        c.-31-1272C>T
      3. ENST00000538125.5
        HGVSc
        c.-31-1272C>T

In Silico Predictors

  • CADD: 0.115
  • Pangolin: 0.0100
  • phyloP: -1.31
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 12-109816000-109817000

Read more about this constraint.

ExpectedObservedConstraint
204.3173Z = 2.19
o/e = 0.85
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-109796099-109836099

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Site Quality Metrics

  • Exome
  • Genome

Value: 7.356e+4 (genome samples)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

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