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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-66
Allele Number-152244152244
Allele Frequency-0.000039410.00003941
Grpmax Filtering AF
(95% confidence)
-0.0005054
East Asian
0.0005054
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

6516800.001161
04156200.000
01527400.000
0347000.000
01061800.000
029400.000
06801200.000
091200.000
0482200.000
0211200.000
XX37782200.00003855
XY37442200.00004031
Total615224400.00003941
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 0 transcripts in 0 genes.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

    In Silico Predictors

    • CADD: 6.76
    • phyloP: 1.27
    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: 12-108749000-108750000

    Read more about this constraint.

    ExpectedObservedConstraint
    131.4129Z = 0.21
    o/e = 0.98
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 12-108729535-108769535

    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 quality0123456Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants6.244e+3

    Value: 6.244e+3 (genome samples)

    Site quality approximation for all variants with 0 <= AF < 0.00005.

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

    Read Data


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