Exomes | Genomes | Total | |
---|---|---|---|
Filters | No data | Pass | Not in exomes |
Allele Count | - | 54 | 54 |
Allele Number | - | 152302 | 152302 |
Allele Frequency | - | 0.0003546 | 0.0003546 |
Grpmax Filtering AF (95% confidence) | - | 0.007863 East Asian | 0.007863 East Asian |
Number of homozygotes | - | 0 | 0 |
52 | 5180 | 0 | 0.01004 | ||
1 | 2114 | 0 | 0.0004730 | ||
1 | 68034 | 0 | 0.00001470 | ||
0 | 41558 | 0 | 0.000 | ||
0 | 15306 | 0 | 0.000 | ||
0 | 3472 | 0 | 0.000 | ||
0 | 10610 | 0 | 0.000 | ||
0 | 294 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
0 | 4822 | 0 | 0.000 | ||
XX | 19 | 77834 | 0 | 0.0002441 | |
XY | 35 | 74468 | 0 | 0.0004700 | |
Total | 54 | 152302 | 0 | 0.0003546 |
The following GRCh37 variant lifts over to this variant:
This variant falls on 21 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: 1-53294000-53295000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
189.5 | 133 | Z = 4.1 o/e = 0.7 |
View the genomic constraint values for the 40kb region surrounding this variant: 1-53274237-53314237
Value: 4.487e+4 (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.