Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-66
Allele Number-152254152254
Allele Frequency-0.000039410.00003941
Grpmax Filtering AF
(95% confidence)
-0.0005052
East Asian
0.0005052
East Asian
Number of homozygotes-00

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

6517000.001161
04156000.000
01528200.000
0347000.000
01062000.000
029400.000
06801000.000
091000.000
0482400.000
0211400.000
XX37780800.00003856
XY37444600.00004030
Total615225400.00003941
Include:

Related Variants

Variant Effect Predictor

This variant falls on 7 transcripts in 2 genes.

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.1955-47719A>G
      2. ENST00000436225.1
        HGVSc
        n.439+17134A>G
      3. ENST00000623433.3
        HGVSc
        n.307+22046A>G
    2. LINC01358

      1. ENST00000625548.1
        HGVSc
        n.110-3382T>C

In Silico Predictors

  • CADD: 1.18
  • Pangolin: 0.00
  • phyloP: -0.0140
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: 1-59181000-59182000

Read more about this constraint.

ExpectedObservedConstraint
175.1167Z = 0.61
o/e = 0.95
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-59161049-59201049

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 quality0123456Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants2.931e+3

Value: 2.931e+3 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

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

Read Data


Always load read data