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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-879879
Allele Number-152302152302
Allele Frequency-0.0057710.005771
Grpmax Filtering AF
(95% confidence)
-0.04518
Admixed American
0.04518
Admixed American
Number of homozygotes-2222

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.

73515294210.04806
76518410.01466
16211400.007569
6482200.001244
354155800.0008422
1347200.0002880
106803400.0001470
01061800.000
029400.000
091200.000
XX3667782670.004703
XY51374476150.006888
Total879152302220.005771
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 2 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. NHSL1

      1. ENST00000427025.6
        HGVSc
        c.202+24681C>T
      2. ENST00000491526.6
        HGVSc
        c.97-50658C>T

In Silico Predictors

  • CADD: 9.56
  • Pangolin: 0.00
  • phyloP: -0.467
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age05101520253035Variant 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 quality0100200300400500600700800Variant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0K45.0K50.0K55.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40M1.60M1.80MGenome variants9.193e+5

Value: 9.193e+5 (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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