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SNV:4-107903405-C-T (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 | 3506 |
| Allele Number | 151998 |
| Allele Frequency | 0.02307 |
| Grpmax Filtering AF (95% confidence) | 0.07777 African/African American |
| Number of homozygotes | 123 |
| Mean depth of coverage | 31.8 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 3311 | 41362 | 122 | 0.08005 | ||
| 36 | 2092 | 0 | 0.01721 | ||
| 145 | 15282 | 1 | 0.009488 | ||
| 2 | 316 | 0 | 0.006329 | ||
| 4 | 4814 | 0 | 0.0008309 | ||
| 8 | 67980 | 0 | 0.0001177 | ||
| 0 | 10614 | 0 | 0.000 | ||
| 0 | 910 | 0 | 0.000 | ||
| 0 | 5158 | 0 | 0.000 | ||
| 0 | 3470 | 0 | 0.000 | ||
| XX | 1885 | 77768 | 75 | 0.02424 | |
| XY | 1621 | 74230 | 48 | 0.02184 | |
| Total | 3506 | 151998 | 123 | 0.02307 | |
Include:
Related Variants
Nearby Variants
Variant Effect Predictor
This variant falls on 2 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
PITX3
- ENST00000370002.8MANE Select transcript for PITX3
- HGVSc
- c.321+142C>G
- ENST00000539804.1
- HGVSc
- c.321+142C>G
- ENST00000370002.8
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- CADD: 0.399
- 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
- 1246648
- Conditions
- not provided
- Germline classification
- Benign
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- December 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
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 2.404e+6 (genome samples)
Site quality approximation for all variants with 0.02 <= AF < 0.05.
Read Data
Always load read data