gnomAD browser
Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.

SNV:17-1737415-C-T (GRCh38)

Dataset
Genomes
Filters Pass
Allele Count25817
Allele Number152022
Allele Frequency0.1698
Grpmax Filtering AF
(95% confidence)		0.2234
European (non-Finnish)
Number of homozygotes2471
Mean depth of coverage32.3

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

153876797816500.2264
2051105842220.1938
2897152602990.1898
8865184790.1709
3372084290.1617
4731640.1487
4523472350.1302
5634828320.1166
9091060.09890
3107414061150.07504
XX134787779213490.1733
XY123397423011220.1662
Total2581715202224710.1698
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Nearby Variants

View variants located within 20 bases of this variant.

Variant Effect Predictor

This variant falls on 7 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. synonymous

    1. WDR81

      1. ENST00000409644.6
        MANE Select transcript for WDR81
        HGVSp
        p.Thr1852Thr
        Domains
        • 2 (Gene3D)
      2. ENST00000309182.9
        HGVSp
        p.Thr801Thr
        Domains
        • 2 (Gene3D)
      3. ENST00000419248.5
        HGVSp
        p.Thr625Thr
        Domains
        • 2 (Gene3D)

  2. intron

    1. AC130343.1

      1. ENST00000576540.1
        Ensembl canonical transcript for AC130343.1
        HGVSc
        n.295+876G>A

  3. non coding transcript exon

    1. WDR81

      1. ENST00000464528.5
        HGVSc
        n.3263C>T

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • CADD: 0.435
  • SpliceAI: 0.170 (acceptor_gain)

Genomic Constraint of Surrounding 1kb Region

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

ClinVar

ClinVar Variation ID
130745
Germline classification
Benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
July 29, 2021

or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40KVariant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KAll 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 carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900KGenome variants2.601e+7

Value: 2.601e+7 (genome samples)

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

Read Data


Always load read data