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SNV:12-112930656-C-G (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 | - | 9 | 9 |
| Allele Number | - | 152360 | 152360 |
| Allele Frequency | - | 0.00005907 | 0.00005907 |
| Grpmax Filtering AF (95% confidence) | - | 0.0009047 East Asian | 0.0009047 East Asian |
| Number of homozygotes | - | 0 | 0 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 9 | 5184 | 0 | 0.001736 | ||
| 0 | 41584 | 0 | 0.000 | ||
| 0 | 15308 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| 0 | 10628 | 0 | 0.000 | ||
| 0 | 294 | 0 | 0.000 | ||
| 0 | 68034 | 0 | 0.000 | ||
| 0 | 910 | 0 | 0.000 | ||
| 0 | 4830 | 0 | 0.000 | ||
| 0 | 2116 | 0 | 0.000 | ||
| XX | 4 | 77862 | 0 | 0.00005137 | |
| XY | 5 | 74498 | 0 | 0.00006712 | |
| Total | 9 | 152360 | 0 | 0.00005907 | |
Include:
Related Variants
Liftover
The following GRCh37 variant lifts over to this variant:
- 12-113368461-C-G
View variant in gnomAD v2.1.1
Nearby Variants
Variant Effect Predictor
This variant falls on 4 transcripts in 2 genes.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
intron
OAS1
- ENST00000540589.3
- HGVSc
- c.1168-1222C>G
- ENST00000551241.6
- HGVSc
- c.1039-1222C>G
- ENST00000552526.2
- HGVSc
- c.1083-1222C>G
- ENST00000540589.3
- ENST00000552784.1Ensembl canonical transcript for
- HGVSc
- n.354-21978G>C
- ENST00000552784.1
In Silico Predictors
- CADD: 2.70
- Pangolin: 0.00
- phyloP: -0.220
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.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: 8.179e+3 (genome samples)
Site quality approximation for all variants with 0.00005 <= AF < 0.0001.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
Always load read data