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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1281312813
Allele Number-152174152174
Allele Frequency-0.084200.08420
Grpmax Filtering AF
(95% confidence)
-0.2708
African/African American
0.2708
African/African American
Number of homozygotes-16521652

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.

114024146015970.2750
5045174230.09741
1372116100.06474
173482650.03585
43115294170.02818
67346800.01932
129400.003401
976801400.001426
11061600.00009420
091200.000
XX6700777528630.08617
XY6113744227890.08214
Total1281315217416520.08420
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 4 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. C1orf185

      1. ENST00000371759.7
        MANE Select transcript for C1orf185
        HGVSc
        c.122+2396T>A
      2. ENST00000467127.5
        HGVSc
        c.-62+2396T>A
      3. ENST00000648827.1
        HGVSc
        c.122+2396T>A

In Silico Predictors

  • CADD: 1.34
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.0960
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: 1-51114000-51115000

Read more about this constraint.

ExpectedObservedConstraint
188.5169Z = 1.42
o/e = 0.9
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-51094965-51134965

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01002003004005006007008009001.00KVariant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants1.091e+7

Value: 1.091e+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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