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ExomesGenomesTotal
Filters AC0PassDiscrepant frequencies
Allele Count035763576
Allele Number4 *152344152348 *
Allele Frequency0.0000.023470.02347
Grpmax Filtering AF
(95% confidence)
0.1126
East Asian
0.1126
East Asian
Number of homozygotes0114114

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.

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.

6245182370.1204
218941578590.05265
50915306150.03325
128482820.02651
51211410.02412
1691200.01754
229400.006803
566804000.0008230
1347200.0002880
01062200.000
XX175577852480.02254
XY182174496660.02444
Total35761523481140.02347
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 6 transcripts in 2 genes.

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

  1. 3' UTR

    1. TXLNB

      1. ENST00000358430.8
        MANE Select transcript for TXLNB
        HGVSc
        c.*752A>G
  2. intron

      1. ENST00000585874.5
        Ensembl canonical transcript for
        HGVSc
        n.172-2443A>G
      2. ENST00000612486.4
        HGVSc
        n.770-2517A>G
      3. ENST00000616537.4
        HGVSc
        n.943-2443A>G

In Silico Predictors

  • CADD: 6.11
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: 0.518
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: 6-139241000-139242000

Read more about this constraint.

ExpectedObservedConstraint
192.7175Z = 1.28
o/e = 0.91
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-139221774-139261774

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age020406080100120140160180200220Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality05001.00K1.50K2.00K2.50K3.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants0200K400K600K800K1.00M1.20M1.40MGenome variants3.299e+65.405e+4

Value: 5.405e+4 (exome samples), 3.299e+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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