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ExomesGenomesTotal
Filters No dataAS VSQRNot in exomes
Allele Count-11
Allele Number-151848151848
Allele Frequency-0.0000065860.000006586
Grpmax Filtering AF
(95% confidence)
-
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

1515600.0001939
04135400.000
01525200.000
0347000.000
01054200.000
029200.000
06795800.000
091200.000
0480600.000
0210600.000
XX07765000.000
XY17419800.00001348
Total115184800.000006586
Include:

Related Variants

Variant Effect Predictor

This variant falls on 4 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. MAPKAPK5

      1. ENST00000550735.7
        MANE Select transcript for MAPKAPK5
        HGVSc
        c.660+771T>A
      2. ENST00000549875.1
        HGVSc
        c.213+771T>A
      3. ENST00000551404.6
        HGVSc
        c.660+771T>A

In Silico Predictors

  • CADD: 7.51
  • SpliceAI: 0.00
  • phyloP: 0.460
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 quality01Variant carriers05.00K10.0K15.0K20.0K25.0K30.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants1.810e+2

Value: 1.810e+2 (genome samples)

Site quality approximation for all singleton variants.

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

Read Data


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