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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1209712097
Allele Number-152228152228
Allele Frequency-0.079470.07947
Grpmax Filtering AF
(95% confidence)
-0.1249
African/African American
0.1249
African/African American
Number of homozygotes-523523

External Resources

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Genetic Ancestry Group Frequencies

5307415223160.1278
9191230.09978
2929450.09864
4605192200.08860
272347290.07834
155211470.07332
4292680201200.06310
59210602170.05584
2584806110.05368
64115294150.04191
XX6345778102780.08154
XY5752744182450.07729
Total120971522285230.07947
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 14 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. FGGY

      1. ENST00000303721.12
        MANE Select transcript for FGGY
        HGVSc
        c.1513-16898_1513-16895dup
      2. ENST00000371210.1
        HGVSc
        c.616-16898_616-16895dup
      3. ENST00000371212.5
        HGVSc
        c.1249-16898_1249-16895dup

In Silico Predictors

  • CADD: 0.944
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.271
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> 80Age0100200300400500600700Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants1.674e+7

Value: 1.674e+7 (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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