12:21590788 C / A


Site Quality
1495260.0
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 96 204 25 46 0.2451 0.451 0.4706
Azeri 110 200 29 52 0.29 0.52 0.55
Baloch 98 202 23 52 0.2277 0.5149 0.4851
Gilaki 91 198 19 53 0.1919 0.5354 0.4596
Kurd 99 200 22 55 0.22 0.55 0.495
Lur 102 200 30 42 0.3 0.42 0.51
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 86 200 22 42 0.22 0.42 0.43
Turkmen 103 200 25 53 0.25 0.53 0.515
Zartoshti 120 200 35 50 0.35 0.5 0.6
Total 1210 2404 305 600 0.25374376039933444 0.49916805324459235 0.5033
Annotations

This variant falls on 5 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) 11.3
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