Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | |
Allele Count | 53269 | 29829 | 83098 |
Allele Number | 303754 * | 152116 | 455870 * |
Allele Frequency | 0.1754 | 0.1961 | 0.1823 |
Grpmax Filtering AF (95% confidence) | 0.2846 Middle Eastern | 0.2658 African/African American | 0.2827 Middle Eastern |
Number of homozygotes | 4980 | 3134 | 8114 |
Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.
917 | 3070 | 153 | 0.2987 | ||
13469 | 50112 | 1814 | 0.2688 | ||
3166 | 14380 | 323 | 0.2202 | ||
12563 | 64550 | 1383 | 0.1946 | ||
2968 | 16330 | 291 | 0.1818 | ||
38683 | 226754 | 3283 | 0.1706 | ||
3636 | 22954 | 280 | 0.1584 | ||
133 | 912 | 10 | 0.1458 | ||
6171 | 42554 | 498 | 0.1450 | ||
1392 | 14254 | 79 | 0.09766 | ||
XX | 38285 | 208540 | 3745 | 0.1836 | |
XY | 44813 | 247330 | 4369 | 0.1812 | |
Total | 83098 | 455870 | 8114 | 0.1823 |
The following GRCh37 variant lifts over to this variant:
This variant falls on 2 transcripts in 2 genes.
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: 12-111900000-111901000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
228.6 | 204 | Z = 1.62 o/e = 0.89 |
View the genomic constraint values for the 40kb region surrounding this variant: 12-111880930-111920930
Value: 1.982e+8 (exome samples), 3.354e+7 (genome samples)
Site quality approximation for all variants with 0.1 <= AF < 0.2.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.