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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-2919329193
Allele Number-151276151276
Allele Frequency-0.19300.1930
Grpmax Filtering AF
(95% confidence)
-0.2790
African/African American
0.2790
African/African American
Number of homozygotes-31623162

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.

115484076416840.2833
2389105422510.2266
189910170.2077
11270679369410.1659
3412108260.1618
5383470420.1550
6184830430.1280
1941152521450.1273
3429410.1156
3255170120.06286
XX149777730415900.1937
XY142167397215720.1922
Total2919315127631620.1930
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 12 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. FGGY

      1. ENST00000303721.12
        MANE Select transcript for FGGY
        HGVSc
        c.554+1233A>T
      2. ENST00000371212.5
        HGVSc
        c.290+1233A>T
      3. ENST00000371218.8
        HGVSc
        c.554+1233A>T

In Silico Predictors

  • CADD: 1.56
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -1.39
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: 1-59380000-59381000

Read more about this constraint.

ExpectedObservedConstraint
184.7229Z = -3.26
o/e = 1.24
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-59360070-59400070

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900KGenome variants2.506e+7

Value: 2.506e+7 (genome samples)

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

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

Read Data


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