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ExomesGenomesTotal
Filters AC0AS VSQRNo variant
Allele Count000
Allele Number14232661522081575474
Allele Frequency0.0000.000
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

07424000.000
05996200.000
02937000.000
04469200.000
06310600.000
0582800.000
0114591000.000
091200.000
09027800.000
06117600.000
XX079065400.000
XY078482000.000
Total0157547400.000
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. CYP17A1

      1. ENST00000369887.4
        MANE Select transcript for CYP17A1
        HGVSc
        c.436+42C>A
      2. ENST00000638190.1
        HGVSc
        c.436+42C>A
      3. ENST00000638272.1
        HGVSc
        c.297+1853C>A

In Silico Predictors

  • CADD: 4.06
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.459
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: 10-102835000-102836000

Read more about this constraint.

ExpectedObservedConstraint
226.2212Z = 0.94
o/e = 0.94
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 10-102815212-102855212

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants2.400e+2

Value: 2.400e+2 (exome 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


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