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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-747747
Allele Number-152152152152
Allele Frequency-0.0049100.004910
Grpmax Filtering AF
(95% confidence)
-0.02534
East Asian
0.02534
East Asian
Number of homozygotes-1414

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Genetic Ancestry Group Frequencies

46510578120.04396
151518400.02913
10482210.002074
4211000.001896
1056797410.001545
81527400.0005238
44153400.00009631
0347000.000
029400.000
091200.000
XX2667776010.003421
XY48174392130.006466
Total747152152140.004910
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 3 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. LINC01358

      1. ENST00000634569.1
        HGVSc
        n.503-6607A>G
      2. ENST00000659582.1
        HGVSc
        n.395-6607A>G
      3. ENST00000665398.1
        HGVSc
        n.203-6607A>G

In Silico Predictors

  • CADD: 3.07
  • Pangolin: 0.00
  • phyloP: -0.121
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: 1-59120000-59121000

Read more about this constraint.

ExpectedObservedConstraint
167.8176Z = -0.63
o/e = 1.05
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-59100377-59140377

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age05101520253035Variant 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 quality0100200300400500600700Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00MGenome variants4.886e+5

Value: 4.886e+5 (genome samples)

Site quality approximation for all variants with 0.002 <= AF < 0.005.

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

Read Data


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