SNV:14-103562995-T-G (GRCh38)
- 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 | 1 |
| Allele Number | 31388 * |
| Allele Frequency | 0.00003186 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 30.6 |
Warning This variant is covered in fewer than 50% of individuals in gnomAD v3.1.2 genomes. This may indicate a low-quality site.
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 7 | 128740 | 0 | 0.00005437 | ||
| 1 | 35260 | 0 | 0.00002836 | ||
| 0 | 25094 | 0 | 0.000 | ||
| 0 | 19950 | 0 | 0.000 | ||
| 0 | 24898 | 0 | 0.000 | ||
| 0 | 30546 | 0 | 0.000 | ||
| 0 | 10352 | 0 | 0.000 | ||
| 0 | 7180 | 0 | 0.000 | ||
| 0 | 0 | 0 | - | ||
| 0 | 0 | 0 | - | ||
| XX | 3 | 129050 | 0 | 0.00002325 | |
| XY | 5 | 152970 | 0 | 0.00003269 | |
| Total | 8 | 282020 | 0 | 0.00002837 | |
Related Variants
Liftover
This variant lifts over to the following GRCh38 variant:
- 20-18489960-T-C
View variant in gnomAD v4.1.0
Nearby Variants
Variant Effect Predictor
This variant falls on 3 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
RBBP9
- ENST00000337227.4Ensembl canonical transcript for RBBP9
- HGVSp
- p.Lys122Arg
- Domains
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000337227.4
non coding transcript exon
RBBP9
- ENST00000491835.1
- HGVSc
- n.329A>G
- ENST00000493184.1
- HGVSc
- n.249A>G
- ENST00000491835.1
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 20-18470000-18471000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 179.7 | 164 | Z = 1.17 o/e = 0.91 |
View the genomic constraint values for the 40kb region surrounding this variant: 20-18450604-18490604
ClinVar
- ClinVar Variation ID
- 3152091
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- January 31, 2024
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: No value for this metric (exome samples), 6.224e+2 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data