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Genomes
Filters Pass
Allele Count1
Allele Number152196
Allele Frequency0.000006570
Grpmax Filtering AF
(95% confidence)
Number of homozygotes0
Mean depth of coverage30.9

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Genetic Ancestry Group Frequencies

1483400.0002069
06801000.000
01062200.000
01528000.000
091200.000
0520200.000
031600.000
04145600.000
0347000.000
0209400.000
XX17784400.00001285
XY07435200.000
Total115219600.000006570
Include:

Related Variants

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. ABCB1

      1. ENST00000622132.5
        MANE Select transcript for ABCB1
        HGVSc
        c.2685+156T>A
      2. ENST00000265724.8
        HGVSc
        c.2685+156T>A
      3. ENST00000543898.5
        HGVSc
        c.2493+156T>A

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • CADD: 4.27
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 7-87531000-87532000

Read more about this constraint.

ExpectedObservedConstraint
163.8153Z = 0.84
o/e = 0.93
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 7-87511138-87551138

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants6.780e+2

Value: 6.780e+2 (genome samples)

Site quality approximation for all singleton variants.

Read Data


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