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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-22
Allele Number-152092152092
Allele Frequency-0.000013150.00001315
Grpmax Filtering AF
(95% confidence)
-0.00006825
East Asian
0.00006825
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

2518600.0003857
04141200.000
01527000.000
0347200.000
01060400.000
031600.000
06800800.000
091200.000
0482200.000
0209000.000
XX07779800.000
XY27429400.00002692
Total215209200.00001315
Include:

Related Variants

Variant Effect Predictor

This variant falls on 7 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. BTF3L4

      1. ENST00000313334.13
        MANE Select transcript for BTF3L4
        HGVSc
        c.169-6306G>A
      2. ENST00000472944.6
        HGVSc
        c.-6-6306G>A
      3. ENST00000484036.1
        HGVSc
        c.169-6306G>A

In Silico Predictors

  • CADD: 4.40
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.207
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: 1-52077000-52078000

Read more about this constraint.

ExpectedObservedConstraint
174.8172Z = 0.21
o/e = 0.98
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-52057034-52097034

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 quality01Variant carriers05.00K10.0K15.0K20.0K25.0K30.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0M16.0M18.0M20.0M22.0M24.0M26.0MGenome variants6.680e+2

Value: 6.680e+2 (genome samples)

Site quality approximation for all doubleton variants.

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

Read Data


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