Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | Discrepant frequencies |
Allele Count | 2219 | 138 | 2357 |
Allele Number | 1461802 | 152254 | 1614056 |
Allele Frequency | 0.001518 | 0.0009064 | 0.001460 |
Grpmax Filtering AF (95% confidence) | 0.001835 European (non-Finnish) | 0.001317 European (non-Finnish) | 0.001817 European (non-Finnish) |
Number of homozygotes | 4 | 1 | 5 |
2222 | 1180044 | 4 | 0.001883 | ||
46 | 62488 | 0 | 0.0007361 | ||
38 | 60016 | 1 | 0.0006332 | ||
3 | 6064 | 0 | 0.0004947 | ||
23 | 74952 | 0 | 0.0003069 | ||
17 | 91092 | 0 | 0.0001866 | ||
5 | 29606 | 0 | 0.0001689 | ||
3 | 63984 | 0 | 0.00004689 | ||
0 | 44898 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
XX | 1199 | 812486 | 4 | 0.001476 | |
XY | 1158 | 801570 | 1 | 0.001445 | |
Total | 2357 | 1614056 | 5 | 0.001460 |
The following GRCh37 variant lifts over to this variant:
This variant falls on 1 transcript in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Value: 2.350e+6 (exome samples), 1.641e+5 (genome samples)
Site quality approximation for all variants with 0.0005 <= AF < 0.001.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.