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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-13111311
Allele Number-152224152224
Allele Frequency-0.0086120.008612
Grpmax Filtering AF
(95% confidence)
-0.09099
East Asian
0.09099
East Asian
Number of homozygotes-3232

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.

5085182220.09803
163481830.03383
32211420.01514
5174151620.01245
18347000.005187
361528830.002355
366802400.0005292
11060600.00009429
029400.000
091200.000
XX61677798170.007918
XY69574426150.009338
Total1311152224320.008612
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 3 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.259-8595T>C
      2. ENST00000467127.5
        HGVSc
        c.76-8595T>C
      3. ENST00000648827.1
        HGVSc
        c.259-10338T>C

In Silico Predictors

  • CADD: 1.64
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.262
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: 1-51137000-51138000

Read more about this constraint.

ExpectedObservedConstraint
176.8188Z = -0.84
o/e = 1.06
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-51117129-51157129

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0102030405060708090Variant 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 quality01002003004005006007008009001.00K1.10K1.20KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40M1.60M1.80MGenome variants1.143e+6

Value: 1.143e+6 (genome samples)

Site quality approximation for all variants with 0.005 <= AF < 0.01.

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

Read Data


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