12:21649160 T / C


Site Quality
2097.63
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 10 204 5 0 0.049 0.0 0.04902
Azeri 2 200 1 0 0.01 0.0 0.01
Baloch 12 202 6 0 0.0594 0.0 0.05941
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 5 200 2 1 0.02 0.01 0.025
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 12 200 6 0 0.06 0.0 0.06
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 4 200 2 0 0.02 0.0 0.02
Sistani 13 200 6 1 0.06 0.01 0.065
Turkmen 10 200 4 2 0.04 0.02 0.05
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 86 2404 41 4 0.03410981697171381 0.0033277870216306157 0.03577
Annotations

This variant falls on 8 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) 0.441
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