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SNV:17-78425732-A-G (GRCh38)

Dataset
Genomes
Filters Pass
Allele Count23310
Allele Number147186
Allele Frequency0.1584
Grpmax Filtering AF
(95% confidence)		0.1734
African/African American
Number of homozygotes1950
Mean depth of coverage29.2

External Resources

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Genetic Ancestry Group Frequencies

7873452810.2280
6129280.2089
6814385086000.1770
11295674929720.1674
151906110.1667
3362024240.1660
7334716580.1554
1859148901370.1248
11169818550.1137
158508840.03105
XX123327558010510.1632
XY10978716068990.1533
Total2331014718619500.1584
Include:

Related Variants

Nearby Variants

View variants located within 20 bases of this variant.

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. DNAH17

      1. ENST00000389840.7
        MANE Select transcript for DNAH17
        HGVSc
        c.12916-161T>C
      2. ENST00000586052.5
        HGVSc
        n.6077-161T>C
      3. ENST00000590227.5
        HGVSc
        n.2590-161T>C

In Silico Predictors

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

  • CADD: 1.06
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 17-78425000-78426000

Read more about this constraint.

ExpectedObservedConstraint
165.6164Z = 0.12
o/e = 0.99
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 17-78405732-78445732

ClinVar

ClinVar Variation ID
1263175
Conditions
not provided
Germline classification
Benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
May 11, 2021

or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01002003004005006007008009001.00K1.10K1.20KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900KGenome variants2.340e+7

Value: 2.340e+7 (genome samples)

Site quality approximation for all variants with 0.1 <= AF < 0.2.

Read Data


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