Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | |
Allele Count | 8 | 1 | 9 |
Allele Number | 243624 * | 31276 * | 274900 * |
Allele Frequency | 0.00003284 | 0.00003197 | 0.00003274 |
Grpmax Filtering AF (95% confidence) | 0.00003007 European (non-Finnish) | — | |
Number of homozygotes | 0 | 0 | 0 |
Warning This variant is covered in fewer than 50% of individuals in both gnomAD v4.1.0 exomes and genomes. This may indicate a low-quality site.
8 | 122644 | 0 | 0.00006523 | ||
1 | 30466 | 0 | 0.00003282 | ||
0 | 24478 | 0 | 0.000 | ||
0 | 35206 | 0 | 0.000 | ||
0 | 10154 | 0 | 0.000 | ||
0 | 19792 | 0 | 0.000 | ||
0 | 25084 | 0 | 0.000 | ||
0 | 0 | 0 | - | ||
0 | 0 | 0 | - | ||
0 | 0 | 0 | - | ||
XX | 4 | 125074 | 0 | 0.00003198 | |
XY | 5 | 149826 | 0 | 0.00003337 | |
Total | 9 | 267824 | 0 | 0.00003360 |
This variant lifts over to the following GRCh38 variant:
This variant falls on 6 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: 11-85956000-85957000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
137.3 | 160 | Z = -1.94 o/e = 1.17 |
View the genomic constraint values for the 40kb region surrounding this variant: 11-85936367-85976367
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Value: 7.590e+3 (exome samples), 3.454e+2 (genome samples)
Site quality approximation for all singleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.