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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3636
Allele Number-152224152224
Allele Frequency-0.00023650.0002365
Grpmax Filtering AF
(95% confidence)
-0.002874
East Asian
0.002874
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

22518000.004247
1482600.0002072
74153400.0001685
66802000.00008821
01528600.000
0347200.000
01058800.000
029400.000
091200.000
0211200.000
XX217782200.0002698
XY157440200.0002016
Total3615222400.0002365
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 4 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. ENST00000655618.1
        Ensembl canonical transcript for
        HGVSc
        n.81+28454C>T
      2. ENST00000417643.5
        HGVSc
        n.58+28454C>T
      3. ENST00000626605.1
        HGVSc
        n.214+28454C>T

In Silico Predictors

  • CADD: 0.189
  • Pangolin: 0.00
  • phyloP: -0.367
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: 6-136197000-136198000

Read more about this constraint.

ExpectedObservedConstraint
172.5190Z = -1.33
o/e = 1.1
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-136177084-136217084

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01234Variant 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 quality051015202530Variant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KAll 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 variants7.201e+4

Value: 7.201e+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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