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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3584535845
Allele Number-151992151992
Allele Frequency-0.23580.2358
Grpmax Filtering AF
(95% confidence)
-0.2747
Admixed American
0.2747
Admixed American
Number of homozygotes-44754475

External Resources

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Genetic Ancestry Group Frequencies

93294180.3163
3281105264940.3117
4298152586170.2817
182656794824040.2688
92334681240.2661
5502110800.2607
7177414886450.1730
152910140.1670
6384816510.1325
4685174280.09045
XX184387771423080.2373
XY174077427821670.2343
Total3584515199244750.2358
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 2 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. ECT2L

      1. ENST00000541398.7
        MANE Select transcript for ECT2L
        HGVSc
        c.179+1760A>C
      2. ENST00000367682.6
        HGVSc
        c.179+1760A>C

In Silico Predictors

  • CADD: 1.14
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.0130
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: 6-138816000-138817000

Read more about this constraint.

ExpectedObservedConstraint
210.7180Z = 2.11
o/e = 0.85
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-138796363-138836363

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants4.547e+7

Value: 4.547e+7 (genome samples)

Site quality approximation for all variants with 0.2 <= AF < 0.5.

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

Read Data


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