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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1313
Allele Number-152054152054
Allele Frequency-0.000085500.00008550
Grpmax Filtering AF
(95% confidence)
-0.00007910
European (non-Finnish)
0.00007910
European (non-Finnish)
Number of homozygotes-00

External Resources

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Genetic Ancestry Group Frequencies

1209200.0004780
1518400.0001929
106801400.0001470
11525200.00006557
04139000.000
0346800.000
01060400.000
031600.000
091000.000
0482400.000
XX97778400.0001157
XY47427000.00005386
Total1315205400.00008550
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 7 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. OSBPL9

      1. ENST00000428468.6
        MANE Select transcript for OSBPL9
        HGVSc
        c.112-527A>G
      2. ENST00000371714.5
        HGVSc
        c.112-527A>G
      3. ENST00000447887.5
        HGVSc
        c.112-527A>G

In Silico Predictors

  • CADD: 1.18
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.915
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: 1-51651000-51652000

Read more about this constraint.

ExpectedObservedConstraint
200.4184Z = 1.16
o/e = 0.92
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-51631464-51671464

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 quality012345678910111213Variant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants1.377e+4

Value: 1.377e+4 (genome samples)

Site quality approximation for all variants with 0.00005 <= AF < 0.0001.

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

Read Data


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