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SNV:14-78714883-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 | Pass | No variant | |
| Allele Count | 2 | 0 | 2 |
| Allele Number | 1461848 | 152166 | 1614014 |
| Allele Frequency | 0.000001368 | 0.000001239 | |
| Grpmax Filtering AF (95% confidence) | 0.000007410 Admixed American | 0.000005530 Admixed American | |
| Number of homozygotes | 0 | 0 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
| 2 | 60014 | 0 | 0.00003333 | ||
| 0 | 74986 | 0 | 0.000 | ||
| 0 | 29604 | 0 | 0.000 | ||
| 0 | 44836 | 0 | 0.000 | ||
| 0 | 64010 | 0 | 0.000 | ||
| 0 | 6062 | 0 | 0.000 | ||
| 0 | 1179996 | 0 | 0.000 | ||
| 0 | 910 | 0 | 0.000 | ||
| 0 | 91086 | 0 | 0.000 | ||
| 0 | 62510 | 0 | 0.000 | ||
| XX | 1 | 812406 | 0 | 0.000001231 | |
| XY | 1 | 801608 | 0 | 0.000001247 | |
| Total | 2 | 1614014 | 0 | 0.000001239 | |
Include:
Related Variants
Liftover
The following GRCh37 variant lifts over to this variant:
- 14-79181226-C-G
View variant in gnomAD v2.1.1
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 6 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
synonymous
NRXN3
- ENST00000335750.7MANE Select transcript for NRXN3
- HGVSp
- p.Thr596Thr
- Domains
- ENST00000554719.5
- HGVSp
- p.Thr223Thr
- Domains
- ENST00000554738.5
- HGVSp
- p.Thr594Thr
- Domains
- ENST00000335750.7
non coding transcript exon
NRXN3
- ENST00000556496.2
- HGVSc
- n.1132C>G
- ENST00000556496.2
In Silico Predictors
- CADD: 0.678
- SpliceAI: 0.00
- Pangolin: 0.00
- phyloP: -11.2
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 14-78714000-78715000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 125.7 | 126 | Z = -0.03 o/e = 1 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 14-78694883-78734883
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: 3.518e+8 (exome 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