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SNV:9-95099655-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 | Pass | |
| Allele Count | 3 | 5 | 8 |
| Allele Number | 79390 * | 152176 | 231566 * |
| Allele Frequency | 0.00003779 | 0.00003286 | 0.00003455 |
| Grpmax Filtering AF (95% confidence) | 0.000006760 European (non-Finnish) | 0.00002847 European (non-Finnish) | 0.00002781 European (non-Finnish) |
| Number of homozygotes | 0 | 0 | 0 |
Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 8756 | 0 | 0.0001142 | ||
| 7 | 117072 | 0 | 0.00005979 | ||
| 0 | 45304 | 0 | 0.000 | ||
| 0 | 17704 | 0 | 0.000 | ||
| 0 | 8494 | 0 | 0.000 | ||
| 0 | 16388 | 0 | 0.000 | ||
| 0 | 10672 | 0 | 0.000 | ||
| 0 | 780 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5484 | 0 | 0.000 | ||
| XX | 5 | 120630 | 0 | 0.00004145 | |
| XY | 3 | 110936 | 0 | 0.00002704 | |
| Total | 8 | 231566 | 0 | 0.00003455 | |
Include:
Related Variants
Other Alternate Alleles
This variant is multiallelic. Other alternate alleles are:
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.
3' UTR
FANCC
- ENST00000289081.8MANE Select transcript for FANCC
- HGVSc
- c.*2052G>C
- ENST00000375305.6
- HGVSc
- c.*2052G>C
- ENST00000289081.8
In Silico Predictors
- CADD: 0.574
- SpliceAI: 0.00
- Pangolin: 0.00
- phyloP: -0.285
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.ClinVar
- ClinVar Variation ID
- 367576
- Conditions
- Fanconi anemia complementation group C
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- January 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: 2.395e+3 (exome samples), 2.747e+3 (genome samples)
Site quality approximation for all variants with 0 <= AF < 0.00005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
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