12:21609762 _ / AACT


Site Quality
1237750.0
Filter Status
PASS
Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Number of Heterozygotes Homozygous Genotype Freq. Heterozygous Genotype Freq. Allele Frequency
Arab 93 204 22 49 0.2157 0.4804 0.4559
Azeri 110 200 29 52 0.29 0.52 0.55
Baloch 97 202 22 53 0.2178 0.5248 0.4802
Gilaki 90 198 19 52 0.1919 0.5253 0.4545
Kurd 99 200 22 55 0.22 0.55 0.495
Lur 101 200 29 43 0.29 0.43 0.505
Mazani 96 200 25 46 0.25 0.46 0.48
Persian 101 200 22 57 0.22 0.57 0.505
Persian Gulf Islander 108 200 28 52 0.28 0.52 0.54
Sistani 80 200 19 42 0.19 0.42 0.4
Turkmen 98 200 22 54 0.22 0.54 0.49
Zartoshti 121 200 36 49 0.36 0.49 0.605
Total 1194 2404 295 604 0.2454242928452579 0.502495840266223 0.4967
Annotations

This variant falls on 7 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.

Additional Annotations
Metric Prediction
SIFT Pred (C) ?
Polyphen2 HVAR Pred (C) ?
MutationTaster Pred (C) ?
MutationAssessor Pred (C) ?
FATHMM Pred (C) ?
FATHMM MKL Coding Pred (C) ?
N of 6 Predicted Damaging ?
N of 6 Predicted Tolerated ?
MetaSVM Pred ?
MetaLR Pred ?
GERP++ RS ?
CADD Score (Phred Scale) 4.079
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above