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Genomes
Filters Pass
Allele Count1
Allele Number152168
Allele Frequency0.000006572
Grpmax Filtering AF
(95% confidence)
Number of homozygotes0
Mean depth of coverage32.1

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Genetic Ancestry Group Frequencies

14144000.00002413
06802400.000
01061200.000
01527200.000
091200.000
0520200.000
031600.000
0482600.000
0347200.000
0209200.000
XX17783600.00001285
XY07433200.000
Total115216800.000006572
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Variant Effect Predictor

This variant falls on 1 transcript 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. STK39

      1. ENST00000355999.5
        MANE Select transcript for STK39
        HGVSc
        c.209-2665A>T

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • CADD: 3.06
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 2-168184000-168185000

Read more about this constraint.

ExpectedObservedConstraint
107.7117Z = -0.9
o/e = 1.09
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 2-168164755-168204755

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0KAll 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 variants1.937e+4

Value: 1.937e+4 (genome samples)

Site quality approximation for all singleton variants.

Read Data


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