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SNV:6-39183470-C-T (GRCh37)
Dataset
- gnomAD v2.1.1
- GRCh38
- gnomAD v4.1.0807,162 samples
- gnomAD v4.1.0 (non-UKB)314,392 samples
- gnomAD v3.1.276,156 samples
- gnomAD v3.1.2 (non-cancer)74,023 samples
- gnomAD v3.1.2 (non-neuro)67,442 samples
- gnomAD v3.1.2 (non-v2)57,344 samples
- gnomAD v3.1.2 (non-TOPMed)40,433 samples
- gnomAD v3.1.2 (controls/biobanks)16,465 samples
- GRCh37
- gnomAD v2.1.1141,456 samples
- gnomAD v2.1.1 (non-TOPMed)135,743 samples
- gnomAD v2.1.1 (non-cancer)134,187 samples
- gnomAD v2.1.1 (non-neuro)114,704 samples
- gnomAD v2.1.1 (controls)60,146 samples
- ExAC60,706 samples
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | No variant | Pass | |
| Allele Count | 6444 | 6444 | |
| Allele Number | 31358 | 31358 | |
| Allele Frequency | 0.2055 | 0.2055 | |
| Grpmax Filtering AF (95% confidence) | 0.2698 European (non-Finnish) | ||
| Number of homozygotes | 801 | 801 | |
| Mean depth of coverage | – | 34.2 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
| 236 | 846 | 33 | 0.2790 | ||
| 4263 | 15404 | 592 | 0.2767 | ||
| 74 | 290 | 10 | 0.2552 | ||
| 277 | 1088 | 36 | 0.2546 | ||
| 720 | 3472 | 76 | 0.2074 | ||
| 302 | 1550 | 33 | 0.1948 | ||
| 572 | 8708 | 21 | 0.06569 | ||
| 0 | 0 | 0 | - | ||
| XX | 2902 | 13906 | 369 | 0.2087 | |
| XY | 3542 | 17452 | 432 | 0.2030 | |
| Total | 6444 | 31358 | 801 | 0.2055 | |
* 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:
- 6-39215694-C-T
View variant in gnomAD v4.1.0
Nearby Variants
Ensembl 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.
intron
KCNK5
- ENST00000359534.3Ensembl canonical transcript for KCNK5
- HGVSc
- c.186+13232G>A
- ENST00000359534.3
Age Distribution
- Exome
- Genome
- Variant carriers
- All individuals
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 4.354e+6 (genome samples)
This is the site quality distribution for all genome 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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