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ExomesGenomesTotal
Filters PassPass
Allele Count314
Allele Number11609261521441313070
Allele Frequency0.0000025840.0000065730.000003046
Grpmax Filtering AF
(95% confidence)
Number of homozygotes000

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Genetic Ancestry Group Frequencies

25257400.00003804
14346400.00002301
18502400.00001176
06861800.000
05952800.000
02770800.000
06383400.000
0527000.000
090613800.000
091200.000
XX264648800.000003094
XY266658200.000003000
Total4131307000.000003046
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Variant Effect Predictor

This variant falls on 6 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. PAH

      1. ENST00000553106.6
        MANE Select transcript for PAH
        HGVSc
        c.969+71C>T
      2. ENST00000307000.7
        HGVSc
        c.954+71C>T
      3. ENST00000635477.1
        HGVSc
        c.74-2393C>T

In Silico Predictors

  • CADD: 0.382
  • SpliceAI: 0.00
  • Pangolin: -0.0100
  • phyloP: -0.330
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: 12-102846000-102847000

Read more about this constraint.

ExpectedObservedConstraint
178.5181Z = -0.19
o/e = 1.01
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-102826824-102866824

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01234Variant carriers050.0K100K150K200K250K300K350KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants1.457e+34.917e+3

Value: 4.917e+3 (exome samples), 1.457e+3 (genome samples)

Site quality approximation for all singleton variants.

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

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