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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-66
Allele Number-152300152300
Allele Frequency-0.000039400.00003940
Grpmax Filtering AF
(95% confidence)
-0.0003796
East Asian
0.0003796
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

5518600.0009641
16802400.00001470
04156400.000
01529600.000
0346800.000
01061400.000
029400.000
091200.000
0482800.000
0211400.000
XX27782800.00002570
XY47447200.00005371
Total615230000.00003940
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 9 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. PDE7B

      1. ENST00000308191.11
        MANE Select transcript for PDE7B
        HGVSc
        c.166+12653T>C
      2. ENST00000615259.4
        HGVSc
        c.322+12653T>C
      1. ENST00000655618.1
        Ensembl canonical transcript for
        HGVSc
        n.179-25179A>G
      2. ENST00000417643.5
        HGVSc
        n.156-4295A>G
      3. ENST00000585946.5
        HGVSc
        n.496-25179A>G

In Silico Predictors

  • CADD: 1.21
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.447
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: 6-136121000-136122000

Read more about this constraint.

ExpectedObservedConstraint
183.3167Z = 1.2
o/e = 0.91
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-136101467-136141467

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 quality0123456Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants3.998e+3

Value: 3.998e+3 (genome 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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