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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-22
Allele Number-152312152312
Allele Frequency-0.000013130.00001313
Grpmax Filtering AF
(95% confidence)
-0.00006830
East Asian
0.00006830
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

2518200.0003860
04157400.000
01529200.000
0347000.000
01062800.000
029400.000
06802000.000
091200.000
0482800.000
0211200.000
XX17782000.00001285
XY17449200.00001342
Total215231200.00001313
Include:

Related Variants

Variant Effect Predictor

This variant falls on 2 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. EPS15-AS1

      1. ENST00000426017.1
        Ensembl canonical transcript for EPS15-AS1
        HGVSc
        n.65-3424T>C
      2. ENST00000415031.1
        HGVSc
        n.176-3421T>C

In Silico Predictors

  • CADD: 6.66
  • Pangolin: 0.00
  • phyloP: 0.106
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: 1-51557000-51558000

Read more about this constraint.

ExpectedObservedConstraint
161.8158Z = 0.3
o/e = 0.98
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-51537461-51577461

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0M16.0M18.0M20.0M22.0M24.0M26.0MGenome variants3.829e+3

Value: 3.829e+3 (genome samples)

Site quality approximation for all doubleton variants.

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

Read Data


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