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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-26332633
Allele Number-152314152314
Allele Frequency-0.017290.01729
Grpmax Filtering AF
(95% confidence)
-0.09451
South Asian
0.09451
South Asian
Number of homozygotes-8686

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.

4924826270.1019
4685178240.09038
152941558330.03679
27211610.01276
1011530410.006600
129400.003401
71061200.0006596
86804200.0001176
0347200.000
091200.000
XX120877848220.01552
XY142574466640.01914
Total2633152314860.01729
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.387+69212G>T

In Silico Predictors

  • CADD: 1.67
  • Pangolin: 0.00
  • phyloP: 0.250
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: 1-58081000-58082000

Read more about this constraint.

ExpectedObservedConstraint
167.5166Z = 0.11
o/e = 0.99
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-58061299-58101299

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age020406080100120140160180Variant 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 quality02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40M1.60M1.80MGenome variants2.332e+6

Value: 2.332e+6 (genome samples)

Site quality approximation for all variants with 0.01 <= AF < 0.02.

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

Read Data


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