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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-4141
Allele Number-152270152270
Allele Frequency-0.00026930.0002693
Grpmax Filtering AF
(95% confidence)
-0.004336
East Asian
0.004336
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

31517600.005989
2211200.0009470
3482800.0006214
44156000.00009625
11529400.00006539
0347200.000
01060600.000
029400.000
06801600.000
091200.000
XX197782000.0002442
XY227445000.0002955
Total4115227000.0002693
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 1 transcript 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. ENST00000650173.1
        Ensembl canonical transcript for
        HGVSc
        n.510-31195G>A

In Silico Predictors

  • CADD: 0.701
  • Pangolin: 0.0100
  • phyloP: -0.0840
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> 80Age01234Variant 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 quality0510152025303540Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants3.080e+4

Value: 3.080e+4 (genome samples)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

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

Read Data


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