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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-7173771737
Allele Number-152090152090
Allele Frequency-0.47170.4717
Grpmax Filtering AF
(95% confidence)
-0.6246
East Asian
0.6246
East Asian
Number of homozygotes-1899218992

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.

5919101940.6495
3327517610860.6428
214634686790.6188
285048188800.5915
3991567968117510.5873
57361057615590.5424
148294380.5034
101521082590.4815
64011529013880.4186
96084148211580.2316
XX365407772896120.4701
XY351977436293800.4733
Total71737152090189920.4717
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. SVOP

      1. ENST00000610966.5
        MANE Select transcript for SVOP
        HGVSc
        c.1048+3362A>G

In Silico Predictors

  • CADD: 3.39
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.348
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> 80Age05001.00K1.50K2.00K2.50K3.00KVariant 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 quality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants7.447e+7

Value: 7.447e+7 (genome samples)

Site quality approximation for all variants with 0.2 <= AF < 0.5.

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

Read Data


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