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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-40514051
Allele Number-152318152318
Allele Frequency-0.026600.02660
Grpmax Filtering AF
(95% confidence)
-0.1673
East Asian
0.1673
East Asian
Number of homozygotes-142142

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.

9175186840.1768
2329420.07823
247482470.05120
2931061040.02762
41415308110.02704
176368022310.02592
52211610.02457
2291010.02418
81347000.02334
2394157810.005748
XX194477830690.02498
XY210774488730.02829
Total40511523181420.02660
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. ZYG11A

      1. ENST00000371528.2
        MANE Select transcript for ZYG11A
        HGVSc
        c.1327-1052A>C
      2. ENST00000371532.5
        HGVSc
        c.301-1052A>C
      3. ENST00000612017.4
        HGVSc
        c.301-1052A>C

In Silico Predictors

  • CADD: 1.40
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: -1.62
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> 80Age020406080100120140160180200220240260Variant 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 quality05001.00K1.50K2.00K2.50K3.00K3.50KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.805e+6

Value: 3.805e+6 (genome samples)

Site quality approximation for all variants with 0.02 <= AF < 0.05.

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

Read Data


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