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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-22
Allele Number-152128152128
Allele Frequency-0.000013150.00001315
Grpmax Filtering AF
(95% confidence)
-0.00006830
East Asian
0.00006830
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

2518200.0003860
04142000.000
01527800.000
0346600.000
01060600.000
031600.000
06803600.000
091200.000
0482000.000
0209200.000
XX07782800.000
XY27430000.00002692
Total215212800.00001315
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. ENST00000643167.1
        Ensembl canonical transcript for
        HGVSc
        n.138+49824A>G
      2. ENST00000646341.1
        HGVSc
        n.158+17684A>G

In Silico Predictors

  • CADD: 9.94
  • Pangolin: 0.00
  • phyloP: 0.378
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: 1-55379000-55380000

Read more about this constraint.

ExpectedObservedConstraint
187.7195Z = -0.53
o/e = 1.04
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-55359249-55399249

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 quality012Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0M16.0M18.0M20.0M22.0M24.0M26.0MGenome variants7.037e+3

Value: 7.037e+3 (genome samples)

Site quality approximation for all doubleton variants.

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

Read Data


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