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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-11
Allele Number-152080152080
Allele Frequency-0.0000065750.000006575
Grpmax Filtering AF
(95% confidence)
-
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

1519400.0001925
04140600.000
01527000.000
0347200.000
01059000.000
031600.000
06801000.000
091200.000
0481800.000
0209200.000
XX07779800.000
XY17428200.00001346
Total115208000.000006575
Include:

Related Variants

Variant Effect Predictor

This variant falls on 2 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. GLIS1

      1. ENST00000628545.2
        MANE Select transcript for GLIS1
        HGVSc
        c.259+54220G>A
      2. ENST00000312233.4
        HGVSc
        c.-267+50318G>A

In Silico Predictors

  • CADD: 2.92
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.641
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: 1-53683000-53684000

Read more about this constraint.

ExpectedObservedConstraint
146.9123Z = 1.97
o/e = 0.84
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-53663586-53703586

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 carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll 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 variants9.810e+2

Value: 9.810e+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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