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ExomesGenomesTotal
Filters PassPass
Allele Count112
Allele Number14617301522221613952
Allele Frequency6.841e-70.0000065690.000001239
Grpmax Filtering AF
(95% confidence)
0.000005530
Admixed American
Number of homozygotes000

External Resources

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Genetic Ancestry Group Frequencies

26000000.00003333
07493200.000
02960200.000
04487600.000
06403000.000
0608200.000
0117996000.000
091200.000
09107400.000
06248400.000
XX081240000.000
XY280155200.000002495
Total2161395200.000001239
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. frameshift

    1. DCDC2

      1. ENST00000378454.8
        MANE Select transcript for DCDC2
        HGVSp
        p.Lys214IlefsTer18
        Domains
        pLoF
        High-confidence

In Silico Predictors

  • CADD: 29.0
  • SpliceAI: 0.00
  • Pangolin: -0.0300
  • phyloP: 0.0400
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: 6-24290000-24291000

Read more about this constraint.

ExpectedObservedConstraint
10284Z = 1.78
o/e = 0.82
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-24270995-24310995

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00MExome variants010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants1.024e+35.610e+2

Value: 5.610e+2 (exome samples), 1.024e+3 (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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