Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1313
Allele Number-152308152308
Allele Frequency-0.000085350.00008535
Grpmax Filtering AF
(95% confidence)
-0.001485
East Asian
0.001485
East Asian
Number of homozygotes-00

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

13517800.002511
04158800.000
01530200.000
0347200.000
01060400.000
029400.000
06801800.000
091200.000
0482400.000
0211600.000
XX77782600.00008994
XY67448200.00008056
Total1315230800.00008535
Include:

Related Variants

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+38990A>G

In Silico Predictors

  • CADD: 5.18
  • Pangolin: 0.00
  • phyloP: 0.135
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: 1-59251000-59252000

Read more about this constraint.

ExpectedObservedConstraint
221.5230Z = -0.57
o/e = 1.04
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-59231204-59271204

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant 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 quality012345678910111213Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants1.679e+4

Value: 1.679e+4 (genome samples)

Site quality approximation for all variants with 0.00005 <= AF < 0.0001.

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

Read Data


Always load read data