Genomes | |
---|---|
Filters | Pass |
Allele Count | 3 |
Allele Number | 152044 |
Allele Frequency | 0.00001973 |
Grpmax Filtering AF (95% confidence) | 0.00005290 Admixed American |
Number of homozygotes | 1 |
Mean depth of coverage | 31.1 |
3 | 15270 | 1 | 0.0001965 | ||
0 | 68028 | 0 | 0.000 | ||
0 | 10586 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
0 | 5184 | 0 | 0.000 | ||
0 | 316 | 0 | 0.000 | ||
0 | 41364 | 0 | 0.000 | ||
0 | 4824 | 0 | 0.000 | ||
0 | 3472 | 0 | 0.000 | ||
0 | 2088 | 0 | 0.000 | ||
XX | 1 | 77794 | 0 | 0.00001285 | |
XY | 2 | 74250 | 1 | 0.00002694 | |
Total | 3 | 152044 | 1 | 0.00001973 |
This variant falls on 16 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
Genomic constraint values displayed are for the region: 4-1900000-1901000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
220.7 | 176 | Z = 3.01 o/e = 0.8 |
View the genomic constraint values for the 40kb region surrounding this variant: 4-1880705-1920705
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Value: 2.009e+3 (genome samples)
Site quality approximation for all variants with 0 <= AF < 0.00005.