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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3434
Allele Number-152304152304
Allele Frequency-0.00022320.0002232
Grpmax Filtering AF
(95% confidence)
-0.0005390
African/African American
0.0005390
African/African American
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

314156600.0007458
3516000.0005814
01529800.000
0347200.000
01062800.000
029400.000
06803600.000
091200.000
0482200.000
0211600.000
XX157784400.0001927
XY197446000.0002552
Total3415230400.0002232
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. ENST00000689429.1
        Ensembl canonical transcript for
        HGVSc
        n.325-22614G>A

In Silico Predictors

  • CADD: 5.24
  • Pangolin: 0.170
  • phyloP: -0.0870
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> 80Age0123Variant 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 quality051015202530Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants2.297e+4

Value: 2.297e+4 (genome samples)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

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

Read Data


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