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SNV:6-137131177-A-T (GRCh38)
Dataset
- gnomAD v4.1.0
- 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
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | No data | Pass | Not in exomes |
| Allele Count | - | 2 | 2 |
| Allele Number | - | 152320 | 152320 |
| Allele Frequency | - | 0.00001313 | 0.00001313 |
| Grpmax Filtering AF (95% confidence) | - | 0.00006825 East Asian | 0.00006825 East Asian |
| Number of homozygotes | - | 0 | 0 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 2 | 5186 | 0 | 0.0003857 | ||
| 0 | 41578 | 0 | 0.000 | ||
| 0 | 15306 | 0 | 0.000 | ||
| 0 | 3464 | 0 | 0.000 | ||
| 0 | 10614 | 0 | 0.000 | ||
| 0 | 294 | 0 | 0.000 | ||
| 0 | 68020 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 4830 | 0 | 0.000 | ||
| 0 | 2116 | 0 | 0.000 | ||
| XX | 1 | 77830 | 0 | 0.00001285 | |
| XY | 1 | 74490 | 0 | 0.00001342 | |
| Total | 2 | 152320 | 0 | 0.00001313 | |
Include:
Related Variants
Nearby Variants
Variant Effect Predictor
This variant falls on 4 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
intron
HECTD4
- ENST00000682272.1MANE Select transcript for HECTD4
- HGVSc
- c.6971-1430T>C
- ENST00000377560.9
- HGVSc
- c.6965-1430T>C
- ENST00000550722.5
- HGVSc
- c.6569-1430T>C
- ENST00000682272.1
In Silico Predictors
- CADD: 3.38
- SpliceAI: 0.00
- Pangolin: 0.00
- phyloP: 0.441
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 12-112220000-112221000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 195.8 | 192 | Z = 0.27 o/e = 0.98 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 12-112200919-112240919
Age Distribution
- Exome
- Genome
- Variant carriers
- All individuals
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 6.740e+2 (genome samples)
Site quality approximation for all doubleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
Always load read data