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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-417417
Allele Number-152280152280
Allele Frequency-0.0027380.002738
Grpmax Filtering AF
(95% confidence)
-0.03752
East Asian
0.03752
East Asian
Number of homozygotes-88

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.

218517850.04210
1161529230.007586
12211400.005676
411061000.003864
7482200.001452
166802400.0002352
74156800.0001684
0346600.000
029400.000
091200.000
XX2057782440.002634
XY2127445640.002847
Total41715228080.002738
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 5 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. BTBD11

      1. ENST00000280758.10
        MANE Select transcript for BTBD11
        HGVSc
        c.1491-13180G>A
      2. ENST00000415943.6
        HGVSc
        c.393-13180G>A
      3. ENST00000420571.6
        HGVSc
        c.1491-13180G>A

In Silico Predictors

  • CADD: 2.14
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.581
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age051015202530Variant 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 quality050100150200250300350Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00MGenome variants4.807e+5

Value: 4.807e+5 (genome samples)

Site quality approximation for all variants with 0.002 <= AF < 0.005.

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

Read Data


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