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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-5454
Allele Number-152302152302
Allele Frequency-0.00035460.0003546
Grpmax Filtering AF
(95% confidence)
-0.007863
East Asian
0.007863
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

52518000.01004
1211400.0004730
16803400.00001470
04155800.000
01530600.000
0347200.000
01061000.000
029400.000
091200.000
0482200.000
XX197783400.0002441
XY357446800.0004700
Total5415230200.0003546
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 21 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. LRP8

      1. ENST00000306052.12
        MANE Select transcript for LRP8
        HGVSc
        c.245-4548C>G
      2. ENST00000347547.7
        HGVSc
        c.245-4548C>G
      3. ENST00000354412.7
        HGVSc
        c.245-4548C>G

In Silico Predictors

  • CADD: 7.99
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: 3.51
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: 1-53294000-53295000

Read more about this constraint.

ExpectedObservedConstraint
189.5133Z = 4.1
o/e = 0.7
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-53274237-53314237

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01234567Variant 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 quality05101520253035404550Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants4.487e+4

Value: 4.487e+4 (genome samples)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

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

Read Data


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