Exomes | Genomes | Total | |
---|---|---|---|
Filters | No data | Pass | Not in exomes |
Allele Count | - | 7 | 7 |
Allele Number | - | 152298 | 152298 |
Allele Frequency | - | 0.00004596 | 0.00004596 |
Grpmax Filtering AF (95% confidence) | - | 0.0005030 East Asian | 0.0005030 East Asian |
Number of homozygotes | - | 0 | 0 |
6 | 5186 | 0 | 0.001157 | ||
1 | 68018 | 0 | 0.00001470 | ||
0 | 41570 | 0 | 0.000 | ||
0 | 15290 | 0 | 0.000 | ||
0 | 3470 | 0 | 0.000 | ||
0 | 10622 | 0 | 0.000 | ||
0 | 294 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
0 | 4824 | 0 | 0.000 | ||
0 | 2112 | 0 | 0.000 | ||
XX | 4 | 77816 | 0 | 0.00005140 | |
XY | 3 | 74482 | 0 | 0.00004028 | |
Total | 7 | 152298 | 0 | 0.00004596 |
The following GRCh37 variant lifts over to this variant:
This variant falls on 9 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: 12-112595000-112596000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
181.4 | 166 | Z = 1.15 o/e = 0.91 |
View the genomic constraint values for the 40kb region surrounding this variant: 12-112575339-112615339
Value: 1.162e+4 (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.