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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3625336253
Allele Number-152052152052
Allele Frequency-0.23840.2384
Grpmax Filtering AF
(95% confidence)
-0.2852
European (non-Finnish)
0.2852
European (non-Finnish)
Number of homozygotes-48524852

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

4244105468350.4024
196096794629150.2886
3569152704340.2337
207912190.2270
4402116470.2079
6343468410.1828
7574826750.1569
6366415064610.1534
4329450.1463
3845168200.07430
XX184197774224380.2369
XY178347431024140.2400
Total3625315205248520.2384
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 1 transcript 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. DAB1

      1. ENST00000485760.5
        HGVSc
        n.388-21475C>T

In Silico Predictors

  • CADD: 9.46
  • Pangolin: 0.00
  • phyloP: 0.0550
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: 1-57905000-57906000

Read more about this constraint.

ExpectedObservedConstraint
125.2129Z = -0.34
o/e = 1.03
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-57885637-57925637

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KVariant 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 variants3.631e+7

Value: 3.631e+7 (genome samples)

Site quality approximation for all variants with 0.2 <= AF < 0.5.

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

Read Data


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