12:21609552 G / A


Site Quality
53510.8
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 84 204 42 0 0.4118 0.0 0.4118
Azeri 72 200 36 0 0.36 0.0 0.36
Baloch 130 202 65 0 0.6436 0.0 0.6436
Gilaki 73 198 36 1 0.3636 0.0101 0.3687
Kurd 78 200 39 0 0.39 0.0 0.39
Lur 42 200 21 0 0.21 0.0 0.21
Mazani 110 200 55 0 0.55 0.0 0.55
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 128 200 64 0 0.64 0.0 0.64
Sistani 120 200 60 0 0.6 0.0 0.6
Turkmen 30 200 15 0 0.15 0.0 0.15
Zartoshti 112 200 56 0 0.56 0.0 0.56
Total 985 2404 492 1 0.40931780366056575 0.0008319467554076539 0.4097
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) 0.752
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