SNV:8-105801300-C-T (GRCh38)
- 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 | 3 | 6 |
| Allele Number | 1461680 | 152136 | 1613816 |
| Allele Frequency | 0.000002052 | 0.00001972 | 0.000003718 |
| Grpmax Filtering AF (95% confidence) | 0.00002374 African/African American | 0.00001921 African/African American | 0.00003472 African/African American |
| Number of homozygotes | 0 | 0 | 0 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 6 | 74896 | 0 | 0.00008011 | ||
| 0 | 59994 | 0 | 0.000 | ||
| 0 | 29608 | 0 | 0.000 | ||
| 0 | 44878 | 0 | 0.000 | ||
| 0 | 64014 | 0 | 0.000 | ||
| 0 | 6084 | 0 | 0.000 | ||
| 0 | 1179878 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 91086 | 0 | 0.000 | ||
| 0 | 62466 | 0 | 0.000 | ||
| XX | 5 | 812376 | 0 | 0.000006155 | |
| XY | 1 | 801440 | 0 | 0.000001248 | |
| Total | 6 | 1613816 | 0 | 0.000003718 | |
Related Variants
Liftover
The following GRCh37 variant lifts over to this variant:
- 8-106813528-C-T
View variant in gnomAD v2.1.1
Nearby Variants
Variant Effect Predictor
This variant falls on 12 transcripts in 2 genes.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
synonymous
ZFPM2
- ENST00000407775.7MANE Select transcript for ZFPM2
- HGVSp
- p.Asp406Asp
- Domains
- 3 (Gene3D)
- ENST00000517361.1
- HGVSp
- p.Asp274Asp
- Domains
- 3 (Gene3D)
- ENST00000520492.5
- HGVSp
- p.Asp274Asp
- Domains
- 3 (Gene3D)
- ENST00000407775.7
intron
ZFPM2-AS1
- ENST00000520433.5Ensembl canonical transcript for ZFPM2-AS1
- HGVSc
- n.212-2858G>A
- ENST00000509144.2
- HGVSc
- n.140-2858G>A
- ENST00000518932.5
- HGVSc
- n.66-2858G>A
- ENST00000520433.5
non coding transcript exon
ZFPM2
- ENST00000522296.1
- HGVSc
- n.1012C>T
- ENST00000522296.1
In Silico Predictors
- CADD: 6.11
- SpliceAI: 0.00
- Pangolin: 0.0100
- phyloP: 0.932
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 8-105801000-105802000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 205.1 | 171 | Z = 2.38 o/e = 0.83 |
View the genomic constraint values for the 40kb region surrounding this variant: 8-105781300-105821300
ClinVar
- ClinVar Variation ID
- 1088834
- Conditions
- 46,XY sex reversal 9
- Germline classification
- Likely benign
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- April 27, 2020
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: 4.503e+3 (exome samples), 2.375e+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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