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SNV:12-124948201-G-A (GRCh38)
Dataset
- gnomAD v3.1.2
- 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
| Genomes | |
|---|---|
| Filters | Pass |
| Allele Count | 3 |
| Allele Number | 152280 |
| Allele Frequency | 0.00001970 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 33.7 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 4836 | 0 | 0.0002068 | ||
| 1 | 15292 | 0 | 0.00006539 | ||
| 1 | 68044 | 0 | 0.00001470 | ||
| 0 | 10632 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5202 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41482 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| 0 | 2092 | 0 | 0.000 | ||
| XX | 2 | 77884 | 0 | 0.00002568 | |
| XY | 1 | 74396 | 0 | 0.00001344 | |
| Total | 3 | 152280 | 0 | 0.00001970 | |
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
DHX37
- ENST00000308736.7MANE Select transcript for DHX37
- HGVSc
- c.3291-20C>T
- ENST00000544745.2
- HGVSc
- c.2762-20C>T
- ENST00000542400.5
- HGVSc
- n.1905-20C>T
- ENST00000308736.7
non coding transcript exon
DHX37
- ENST00000507267.2
- HGVSc
- n.415C>T
- ENST00000507267.2
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- CADD: 3.05
- SpliceAI: 0.00 (no_consequence)
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.ClinVar
- ClinVar Variation ID
- 2018185
- Conditions
- not provided
- Germline classification
- Likely benign
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- September 30, 2023
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
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 1.574e+3 (genome samples)
Site quality approximation for all variants with 0 <= AF < 0.00005.
Read Data
Always load read data