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ExomesGenomesTotal
Filters AC0Pass
Allele Count01310313103
Allele Number0 *152202152202 *
Allele Frequency0.0000.086090.08609
Grpmax Filtering AF
(95% confidence)
0.1387
Admixed American
0.1387
Admixed American
Number of homozygotes0776776

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.

7074820670.1467
2196152861820.1437
5699415143840.1373
6725182510.1297
1852110120.08768
60110602110.05669
292768012680.04304
103347010.02968
829400.02721
591200.005482
XX6500777743640.08358
XY6603744284120.08872
Total131031522027760.08609
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 14 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. intron

      1. ENST00000585874.5
        Ensembl canonical transcript for
        HGVSc
        n.418-27009C>T
      1. ENST00000589192.5
        Ensembl canonical transcript for
        HGVSc
        n.221-27009C>T
      2. ENST00000415194.6
        HGVSc
        n.329+4102C>T
      3. ENST00000585447.5
        HGVSc
        n.221-27009C>T

In Silico Predictors

  • CADD: 0.853
  • Pangolin: 0.00
  • phyloP: -0.543
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: 6-139197000-139198000

Read more about this constraint.

ExpectedObservedConstraint
181.6140Z = 3.09
o/e = 0.77
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-139177573-139217573

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0100200300400500600700Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0KVariant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0K13.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants1.229e+72.129e+4

Value: 2.129e+4 (exome samples), 1.229e+7 (genome samples)

Site quality approximation for all variants with 0.05 <= AF < 0.1.

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

Read Data


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