SNV:19-8645696-C-G (GRCh37)
- 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 | 1 | 1 | |
| Allele Number | 31288 | 31288 | |
| Allele Frequency | 0.00003196 | 0.00003196 | |
| Grpmax Filtering AF (95% confidence) | — | ||
| Number of homozygotes | 0 | 0 | |
| Mean depth of coverage | – | 29.6 |
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Report an issue with this variantGenetic Ancestry Group Frequencies
| 1 | 15366 | 0 | 0.00006508 | ||
| 0 | 848 | 0 | 0.000 | ||
| 0 | 8674 | 0 | 0.000 | ||
| 0 | 290 | 0 | 0.000 | ||
| 0 | 1554 | 0 | 0.000 | ||
| 0 | 3468 | 0 | 0.000 | ||
| 0 | 1088 | 0 | 0.000 | ||
| 0 | 0 | 0 | - | ||
| XX | 0 | 13870 | 0 | 0.000 | |
| XY | 1 | 17418 | 0 | 0.00005741 | |
| Total | 1 | 31288 | 0 | 0.00003196 | |
* Allele frequencies for some sub-continental populations were not computed for genome samples.
Related Variants
Liftover
This variant lifts over to the following GRCh38 variant:
- 19-8580812-C-G
View variant in gnomAD v4.1.0
Variant Co-occurrence
Check if this variant occurs on the same haplotype as another variant.
Nearby Variants
Ensembl 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.
3' UTR
ADAMTS10
- ENST00000270328.4Ensembl canonical transcript for ADAMTS10
- HGVSc
- c.*81G>C
- ENST00000595838.1
- HGVSc
- c.*81G>C
- ENST00000597188.1
- HGVSc
- c.*81G>C
- ENST00000270328.4
ClinVar
- ClinVar Variation ID
- 893866
- Conditions
- Weill-Marchesani syndrome
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- January 12, 2018
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
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: 5.101e+2 (genome samples)
This is the site quality distribution for all singleton genome variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
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