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Genomes
Filters Pass
Allele Count5024
Allele Number80714
Allele Frequency0.06224
Grpmax Filtering AF
(95% confidence)
0.1417
African/African American
Number of homozygotes317
Mean depth of coverage31.2

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Genetic Ancestry Group Frequencies

3620247782480.1461
4363752330.1162
72312904310.05603
69152040.04539
527200.01838
74480410.01540
599400.005030
361053200.003418
562104600.002661
011200.000
XX2303328061410.07020
XY2721479081760.05680
Total5024807143170.06224
Include:

Related Variants

Variant Effect Predictor

This variant falls on 2 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. synonymous

    1. TXLNB

      1. ENST00000358430.8
        MANE Select transcript for TXLNB
        HGVSp
        p.Ser94Ser
        Domains
        • mobidb (MobiDB_lite)
        • PTHR16127 (PANTHER)
  2. intron

    1. AL592429.2

      1. ENST00000650173.1
        Ensembl canonical transcript for AL592429.2
        HGVSc
        n.509+1716T>C

In Silico Predictors

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

  • CADD: 0.754
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 6-139288000-139289000

Read more about this constraint.

ExpectedObservedConstraint
181.3151Z = 2.25
o/e = 0.83
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-139268618-139308618

Age Distribution

Age distribution is based on the full gnomAD dataset, not the selected subset.

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age050100150200250300350400450500550600Variant 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 quality05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50K5.00K5.50K6.00K6.50KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants6.514e+6

Value: 6.514e+6 (genome samples)

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

Read Data


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