Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | |
Allele Count | 579 | 488 | 1067 |
Allele Number | 1461700 | 152224 | 1613924 |
Allele Frequency | 0.0003961 | 0.003206 | 0.0006611 |
Grpmax Filtering AF (95% confidence) | 0.01210 African/African American | 0.01026 African/African American | 0.01135 African/African American |
Number of homozygotes | 10 | 4 | 14 |
900 | 75016 | 12 | 0.01200 | ||
21 | 6062 | 0 | 0.003464 | ||
72 | 62482 | 2 | 0.001152 | ||
45 | 60010 | 0 | 0.0007499 | ||
5 | 91078 | 0 | 0.00005490 | ||
24 | 1179890 | 0 | 0.00002034 | ||
0 | 29608 | 0 | 0.000 | ||
0 | 44862 | 0 | 0.000 | ||
0 | 64004 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
XX | 587 | 812376 | 8 | 0.0007226 | |
XY | 480 | 801548 | 6 | 0.0005988 | |
Total | 1067 | 1613924 | 14 | 0.0006611 |
The following GRCh37 variant lifts over to this variant:
This variant falls on 7 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: 2-1209000-1210000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
100.1 | 88 | Z = 1.2 o/e = 0.88 |
View the genomic constraint values for the 40kb region surrounding this variant: 2-1189174-1229174
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Value: 9.380e+5 (exome samples), 3.782e+5 (genome samples)
Site quality approximation for all variants with 0.002 <= AF < 0.005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.