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SNV:1-155291986-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 | 9006 |
| Allele Number | 152006 |
| Allele Frequency | 0.05925 |
| Grpmax Filtering AF (95% confidence) | 0.6641 East Asian |
| Number of homozygotes | 1598 |
| Mean depth of coverage | 30.4 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 3532 | 5172 | 1194 | 0.6829 | ||
| 1034 | 4822 | 129 | 0.2144 | ||
| 2194 | 15254 | 236 | 0.1438 | ||
| 665 | 10600 | 20 | 0.06274 | ||
| 122 | 2088 | 10 | 0.05843 | ||
| 137 | 3470 | 1 | 0.03948 | ||
| 27 | 912 | 0 | 0.02961 | ||
| 919 | 67992 | 7 | 0.01352 | ||
| 3 | 314 | 0 | 0.009554 | ||
| 373 | 41382 | 1 | 0.009014 | ||
| XX | 3908 | 77762 | 679 | 0.05026 | |
| XY | 5098 | 74244 | 919 | 0.06867 | |
| Total | 9006 | 152006 | 1598 | 0.05925 | |
Include:
Related Variants
Nearby Variants
Ensembl 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
PKLR
- ENST00000342741.6MANE Select transcript for PKLR
- HGVSc
- c.1437-49G>A
- ENST00000392414.7
- HGVSc
- c.1344-49G>A
- ENST00000342741.6
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- CADD: 3.21
- SpliceAI: 0.00 (no_consequence)
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 1-155291000-155292000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 118.5 | 99 | Z = 1.79 o/e = 0.84 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 1-155271986-155311986
ClinVar
- ClinVar Variation ID
- 1252339
- Conditions
- not provided
- Germline classification
- Benign
- Review status
- criteria provided, multiple submitters, no conflicts (2 stars)
- Last evaluated
- November 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: 9.411e+6 (genome samples)
Site quality approximation for all variants with 0.05 <= AF < 0.1.
Read Data
Always load read data