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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-97099709
Allele Number-152106152106
Allele Frequency-0.063830.06383
Grpmax Filtering AF
(95% confidence)
-0.1709
East Asian
0.1709
East Asian
Number of homozygotes-375375

External Resources

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Genetic Ancestry Group Frequencies

9325164940.1805
99010574530.09363
89815282260.05876
124211280.05871
3946679881020.05804
235341502800.05670
193346460.05572
255481460.05297
629400.02041
1291200.01316
XX4754777841690.06112
XY4955743222060.06667
Total97091521063750.06383
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. FGGY-DT

      1. ENST00000647858.1
        Ensembl canonical transcript for FGGY-DT
        HGVSc
        n.1954+29446G>T

In Silico Predictors

  • CADD: 0.00300
  • Pangolin: 0.00
  • phyloP: -2.69
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: 1-59260000-59261000

Read more about this constraint.

ExpectedObservedConstraint
173.9187Z = -0.99
o/e = 1.08
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-59240748-59280748

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age050100150200250300350400450500550Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants8.649e+6

Value: 8.649e+6 (genome samples)

Site quality approximation for all variants with 0.05 <= AF < 0.1.

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

Read Data


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