Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | No variant | |
Allele Count | 1 | 0 | 1 |
Allele Number | 1461874 | 152082 | 1613956 |
Allele Frequency | 6.841e-7 | 6.196e-7 | |
Grpmax Filtering AF (95% confidence) | — | — | |
Number of homozygotes | 0 | 0 |
1 | 1179996 | 0 | 8.475e-7 | ||
0 | 74974 | 0 | 0.000 | ||
0 | 60002 | 0 | 0.000 | ||
0 | 29604 | 0 | 0.000 | ||
0 | 44872 | 0 | 0.000 | ||
0 | 63986 | 0 | 0.000 | ||
0 | 6062 | 0 | 0.000 | ||
0 | 908 | 0 | 0.000 | ||
0 | 91050 | 0 | 0.000 | ||
0 | 62502 | 0 | 0.000 | ||
XX | 0 | 812410 | 0 | 0.000 | |
XY | 1 | 801546 | 0 | 0.000001248 | |
Total | 1 | 1613956 | 0 | 6.196e-7 |
The following GRCh37 variant lifts over to this variant:
This variant falls on 4 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: 8-144096000-144097000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
249.4 | 227 | Z = 1.42 o/e = 0.91 |
View the genomic constraint values for the 40kb region surrounding this variant: 8-144076399-144116399
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Value: 1.701e+3 (exome samples)
Site quality approximation for all singleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.