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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1024010240
Allele Number-152022152022
Allele Frequency-0.067360.06736
Grpmax Filtering AF
(95% confidence)
-0.1808
African/African American
0.1808
African/African American
Number of homozygotes-734734

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

7635414306880.1843
2714814140.05629
106210650.05033
47115290100.03080
929400.03061
102347000.02939
141516210.02731
2401056610.02271
2091200.02193
124567978150.01831
XX5264776923840.06775
XY4976743303500.06694
Total102401520227340.06736
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.800-6896G>A
      2. ENST00000371212.5
        HGVSc
        c.536-6896G>A
      3. ENST00000371218.8
        HGVSc
        c.800-6896G>A

In Silico Predictors

  • CADD: 0.984
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.337
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: 1-59547000-59548000

Read more about this constraint.

ExpectedObservedConstraint
142.7151Z = -0.7
o/e = 1.06
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-59527228-59567228

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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants8.139e+6

Value: 8.139e+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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