Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | |
Allele Count | 50 | 9 | 59 |
Allele Number | 251220 * | 31282 * | 282502 * |
Allele Frequency | 0.0001990 | 0.0002877 | 0.0002088 |
Grpmax Filtering AF (95% confidence) | 0.0003041 European (non-Finnish) | 0.0002580 European (non-Finnish) | |
Number of homozygotes | 0 | 0 | 0 |
Warning This variant is covered in fewer than 50% of individuals in both gnomAD v4.1.0 exomes and genomes. This may indicate a low-quality site.
53 | 129044 | 0 | 0.0004107 | ||
3 | 35406 | 0 | 0.00008473 | ||
2 | 24902 | 0 | 0.00008031 | ||
0 | 10338 | 0 | 0.000 | ||
0 | 19954 | 0 | 0.000 | ||
0 | 25022 | 0 | 0.000 | ||
0 | 30616 | 0 | 0.000 | ||
0 | 0 | 0 | - | ||
0 | 0 | 0 | - | ||
0 | 0 | 0 | - | ||
XX | 29 | 129302 | 0 | 0.0002243 | |
XY | 30 | 153200 | 0 | 0.0001958 | |
Total | 58 | 275282 | 0 | 0.0002107 |
This variant lifts over to the following GRCh38 variant:
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.
Genomic constraint values displayed are for the region: 1-16459000-16460000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
207.3 | 190 | Z = 1.2 o/e = 0.92 |
View the genomic constraint values for the 40kb region surrounding this variant: 1-16439744-16479744
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Value: 1.666e+5 (exome samples), 4.917e+3 (genome samples)
Site quality approximation for all variants with 0.0002 <= AF < 0.0005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.