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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1313
Allele Number-152348152348
Allele Frequency-0.000085330.00008533
Grpmax Filtering AF
(95% confidence)
-0.001334
East Asian
0.001334
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

12519000.002312
16804000.00001470
04157000.000
01530600.000
0347200.000
01062800.000
029400.000
091200.000
0482000.000
0211600.000
XX67785000.00007707
XY77449800.00009396
Total1315234800.00008533
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 6 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. IL20RA

      1. ENST00000316649.10
        MANE Select transcript for IL20RA
        HGVSc
        c.88+12079A>C
      2. ENST00000367746.3
        HGVSc
        c.88+12079A>C
      3. ENST00000367748.4
        HGVSc
        c.-67+12079A>C

In Silico Predictors

  • CADD: 7.22
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.540
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

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 quality01234567891011121314Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants3.455e+4

Value: 3.455e+4 (genome samples)

Site quality approximation for all variants with 0.00005 <= AF < 0.0001.

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

Read Data


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