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ExomesGenomesTotal
Filters PassPass
Allele Count236115361176
Allele Number52 *152146152198 *
Allele Frequency0.44230.40190.4020
Grpmax Filtering AF
(95% confidence)
0.2037
European (non-Finnish)
0.6467
East Asian
0.6467
East Asian
Number of homozygotes61271012716

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.

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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.

3430515611450.6652
75421528419000.4935
90921161960.4296
173634151236630.4183
144934723080.4173
366912750.4013
3885106227000.3658
245296800644360.3607
104294210.3537
159948242720.3315
XX311747779664100.4007
XY300027440263060.4032
Total61176152198127160.4020
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 23 transcripts in 2 genes.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. intron

    1. LRP8

      1. ENST00000306052.12
        MANE Select transcript for LRP8
        HGVSc
        c.245-16500G>A
      2. ENST00000347547.7
        HGVSc
        c.245-16500G>A
      3. ENST00000354412.7
        HGVSc
        c.245-16500G>A
  2. splice region

      1. ENST00000446686.1
        Ensembl canonical transcript for
        HGVSc
        n.630C>T

In Silico Predictors

  • CADD: 1.69
  • SpliceAI: 0.00
  • Pangolin: 0.0300
  • phyloP: -0.310
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> 80Age02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40K2.60K2.80KVariant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KExome variants0200K400K600K800K1.00M1.20M1.40MGenome variants6.990e+75.187e+5

Value: 5.187e+5 (exome samples), 6.990e+7 (genome samples)

Site quality approximation for all variants with 0.2 <= AF < 0.5.

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

Read Data


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