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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-63896389
Allele Number-152208152208
Allele Frequency-0.041980.04198
Grpmax Filtering AF
(95% confidence)
-0.07264
African/African American
0.07634
Middle Eastern
Number of homozygotes-200200

External Resources

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Genetic Ancestry Group Frequencies

3129440.1054
3106415021240.07484
241482290.04998
88211060.04171
225768018440.03318
4271529090.02793
80347230.02304
1491200.01535
50518000.009653
951060810.008956
XX329777808960.04237
XY3092744001040.04156
Total63891522082000.04198
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

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

      1. ENST00000371733.8
        MANE Select transcript for EPS15
        HGVSc
        c.2120-788dup
      2. ENST00000371730.6
        HGVSc
        c.1718-788dup

In Silico Predictors

  • CADD: 12.1
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: 1.23
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: 1-51366000-51367000

Read more about this constraint.

ExpectedObservedConstraint
172.8147Z = 1.96
o/e = 0.85
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-51346816-51386816

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age050100150200250300350400Variant 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 quality05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50K5.00K5.50KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants5.056e+6

Value: 5.056e+6 (genome samples)

Site quality approximation for all variants with 0.02 <= AF < 0.05.

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

Read Data


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