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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-2315023150
Allele Number-151658151658
Allele Frequency-0.15260.1526
Grpmax Filtering AF
(95% confidence)
-0.1653
East Asian
0.1653
East Asian
Number of homozygotes-18161816

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.

93534701250.2695
8995144880.1748
3562102340.1694
11205678589140.1651
1698104661340.1622
4129430.1395
5567413703780.1346
6184804480.1286
173715238870.1140
9491250.1031
XX11933775789610.1538
XY11217740808550.1514
Total2315015165818160.1526
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 3 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. IL22RA2

      1. ENST00000296980.7
        MANE Select transcript for IL22RA2
        HGVSc
        c.642+759G>A
      2. ENST00000339602.3
        HGVSc
        c.377-1190G>A
      3. ENST00000349184.8
        HGVSc
        c.546+759G>A

In Silico Predictors

  • CADD: 0.672
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.416
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: 6-137146000-137147000

Read more about this constraint.

ExpectedObservedConstraint
212.8197Z = 1.09
o/e = 0.93
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-137126963-137166963

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01002003004005006007008009001.00K1.10K1.20KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900KGenome variants2.021e+7

Value: 2.021e+7 (genome samples)

Site quality approximation for all variants with 0.1 <= AF < 0.2.

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

Read Data


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