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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1818
Allele Number-152254152254
Allele Frequency-0.00011820.0001182
Grpmax Filtering AF
(95% confidence)
-0.002247
East Asian
0.002247
East Asian
Number of homozygotes-11

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Genetic Ancestry Group Frequencies

18517610.003478
04156400.000
01528600.000
0347200.000
01060600.000
029400.000
06800600.000
091200.000
0482400.000
0211400.000
XX87782000.0001028
XY107443410.0001343
Total1815225410.0001182
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 5 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. ENST00000655921.2
        Ensembl canonical transcript for
        HGVSc
        n.106-34910C>T
      2. ENST00000434593.1
        HGVSc
        n.89-44469C>T
      3. ENST00000650393.1
        HGVSc
        n.137-34910C>T

In Silico Predictors

  • CADD: 0.142
  • Pangolin: 0.0100
  • phyloP: -0.777
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: 6-134575000-134576000

Read more about this constraint.

ExpectedObservedConstraint
160.1151Z = 0.72
o/e = 0.94
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-134555533-134595533

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Site Quality Metrics

  • Exome
  • Genome

Value: 1.651e+4 (genome samples)

Site quality approximation for all variants with 0.0001 <= AF < 0.0002.

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

Read Data


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