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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3698236982
Allele Number-152010152010
Allele Frequency-0.24330.2433
Grpmax Filtering AF
(95% confidence)
-0.4047
South Asian
0.4047
South Asian
Number of homozygotes-55195519

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

202148124580.4200
189951663630.3676
3797105486990.3600
122934702230.3542
89294130.3027
204836796430780.3014
5372112750.2543
3772152624810.2471
222910270.2440
2933414721020.07072
XX184337773226770.2371
XY185497427828420.2497
Total3698215201055190.2433
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: 0.807
    • phyloP: -1.69
    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: 12-108775000-108776000

    Read more about this constraint.

    ExpectedObservedConstraint
    190.9161Z = 2.16
    o/e = 0.84
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 12-108755202-108795202

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.812e+7

    Value: 3.812e+7 (genome samples)

    Site quality approximation for all variants with 0.2 <= AF < 0.5.

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

    Read Data


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