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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-49044904
Allele Number-148680148680
Allele Frequency-0.032980.03298
Grpmax Filtering AF
(95% confidence)
-0.08135
African/African American
0.08135
African/African American
Number of homozygotes-171171

Note This variant is found in a low complexity region.

External Resources

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Genetic Ancestry Group Frequencies

4305100160.08431
3395405621360.08370
228468270.04870
92204280.04505
828400.02817
3001489630.02014
53342800.01546
83986400.008414
3156692610.004707
089600.000
XX245676280820.03220
XY244872400890.03381
Total49041486801710.03298
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. ENST00000691675.1
        Ensembl canonical transcript for
        HGVSc
        n.144+954del

In Silico Predictors

  • CADD: 1.30
  • Pangolin: 0.0100
  • phyloP: 0.162
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: 6-136291000-136292000

Read more about this constraint.

ExpectedObservedConstraint
188180Z = 0.58
o/e = 0.96
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-136271101-136311101

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age050100150200250300Variant 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 quality05001.00K1.50K2.00K2.50K3.00K3.50K4.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.410e+6

Value: 3.410e+6 (genome samples)

Site quality approximation for all variants with 0.02 <= AF < 0.05.

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

Read Data


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