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SNV:17-7536527-G-A (GRCh37)

Dataset
ExomesGenomesTotal
Filters PassPass
Allele Count22407249624903
Allele Number25147031380282850
Allele Frequency0.089100.079540.08804
Grpmax Filtering AF
(95% confidence)		0.1141
East Asian
0.1082
East Asian
Number of homozygotes12461341380
Mean depth of coverage94.230.4

External Resources

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Genetic Ancestry Group Frequencies

123810370760.1194
2365199541590.1185
147731291708990.1144
6807228390.09408
183825104760.07322
207935440720.05866
125930616450.04112
67124968140.02687
XX114111294806260.08813
XY134921533707540.08797
Total2490328285013800.08804

* Allele frequencies for some sub-continental populations were not computed for genome samples.

Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Nearby Variants

View variants located within 20 bases of this variant.

Ensembl Variant Effect Predictor

This variant falls on 18 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. missense

    1. SHBG

      1. ENST00000380450.4
        Ensembl canonical transcript for SHBG
        HGVSp
        p.Asp356Asn
        Domains
        • 2 (Gene3D)
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000441599.2
        HGVSp
        p.Asp241Asn
        Domains
        • 2 (Gene3D)
        Polyphen
        benign
        SIFT
        tolerated
      3. ENST00000570547.1
        HGVSp
        p.Asp183Asn
        Domains
        • 2 (Gene3D)
        Polyphen
        benign
        SIFT
        tolerated

  2. synonymous

    1. SHBG

      1. ENST00000340624.5
        HGVSp
        p.Lys228Lys
        Domains
        • PTHR24040 (hmmpanther)
      2. ENST00000416273.3
        HGVSp
        p.Lys286Lys
        Domains
        • PTHR24040 (hmmpanther)
      3. ENST00000571153.1
        HGVSp
        p.Lys205Lys
        Domains
        • PTHR24040 (hmmpanther)

  3. 3' UTR

    1. SHBG

      1. ENST00000570353.1
        HGVSc
        c.*428G>A
      2. ENST00000570527.1
        HGVSc
        c.*1024G>A

ClinVar

ClinVar Variation ID
1222450
Germline classification
Benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
June 23, 2020

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> 80Age02004006008001.00K1.20K1.40K1.60K1.80K2.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll 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 carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50K5.00K5.50K6.00KExome variants0100K200K300K400K500K600K700K800K900KGenome variants1.403e+66.274e+7

Value: 6.274e+7 (exome samples), 1.403e+6 (genome samples)

This is the site quality distribution for all exome variants with 0.05 <= AF < 0.1 and all genome variants with 0.05 <= AF < 0.1.

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

Read Data


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