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ExomesGenomesTotal
Filters No variantPass
Allele Count011
Allele Number12702421520941422336
Allele Frequency0.0000065757.031e-7
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

17078400.00001413
05515600.000
02786200.000
04283400.000
06186400.000
0558600.000
0101677000.000
091200.000
08454400.000
05602400.000
XX170972600.000001409
XY071261000.000
Total1142233607.031e-7
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Variant Effect Predictor

This variant falls on 5 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. CYP11B1

      1. ENST00000292427.10
        MANE Select transcript for CYP11B1
        HGVSc
        c.954+78_954+115del
      2. ENST00000377675.3
        HGVSc
        c.1167+78_1167+115del
      3. ENST00000517471.5
        HGVSc
        c.954+78_954+115del
    2. GML

      1. ENST00000522728.5
        HGVSc
        c.181+34904_181+34941del
  2. non coding transcript exon

    1. CYP11B1

      1. ENST00000314111.4
        HGVSc
        n.1065_1102del

In Silico Predictors

  • CADD: 1.98
  • SpliceAI: 0.0100
  • Pangolin: -0.0800
  • phyloP: 0.782
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> 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 carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants6.950e+2

Value: 6.950e+2 (genome samples)

Site quality approximation for all singleton variants.

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

Read Data


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