12:21628791 T / C


Site Quality
819377.0
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 85 204 18 49 0.1765 0.4804 0.4167
Azeri 96 200 26 44 0.26 0.44 0.48
Baloch 83 202 18 47 0.1782 0.4653 0.4109
Gilaki 83 198 17 49 0.1717 0.4949 0.4192
Kurd 90 200 19 52 0.19 0.52 0.45
Lur 95 200 24 47 0.24 0.47 0.475
Mazani 79 200 19 41 0.19 0.41 0.395
Persian 97 200 18 61 0.18 0.61 0.485
Persian Gulf Islander 105 200 23 59 0.23 0.59 0.525
Sistani 78 200 17 44 0.17 0.44 0.39
Turkmen 93 200 22 49 0.22 0.49 0.465
Zartoshti 91 200 20 51 0.2 0.51 0.455
Total 1075 2404 241 593 0.20049916805324458 0.4933444259567388 0.4472
Annotations

This variant falls on 2 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) 9.267
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