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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-88
Allele Number-152258152258
Allele Frequency-0.000052540.00005254
Grpmax Filtering AF
(95% confidence)
-0.0002628
East Asian
0.0002628
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

4518800.0007710
24153800.00004815
26801800.00002940
01530000.000
0347200.000
01060200.000
029400.000
091200.000
0482200.000
0211200.000
XX67781600.00007710
XY27444200.00002687
Total815225800.00005254
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. LINC00271

      1. ENST00000655302.1
        Ensembl canonical transcript for LINC00271
        HGVSc
        n.669-7890G>A
      2. ENST00000685995.1
        HGVSc
        n.822-7890G>A
      3. ENST00000690403.1
        HGVSc
        n.508-7890G>A

In Silico Predictors

  • CADD: 0.646
  • Pangolin: 0.00
  • phyloP: -0.935
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: 6-135801000-135802000

Read more about this constraint.

ExpectedObservedConstraint
175.3207Z = -2.4
o/e = 1.18
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-135781957-135821957

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012Variant 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 quality012345678Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants1.402e+4

Value: 1.402e+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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