12:21615248 T / G


Site Quality
110570.0
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 48 204 14 20 0.1373 0.1961 0.2353
Azeri 49 200 18 13 0.18 0.13 0.245
Baloch 85 202 20 45 0.198 0.4455 0.4208
Gilaki 70 198 16 38 0.1616 0.3838 0.3535
Kurd 53 200 15 23 0.15 0.23 0.265
Lur 36 200 15 6 0.15 0.06 0.18
Mazani 80 200 27 26 0.27 0.26 0.4
Persian 12 200 5 2 0.05 0.02 0.06
Persian Gulf Islander 84 200 23 38 0.23 0.38 0.42
Sistani 76 200 21 34 0.21 0.34 0.38
Turkmen 9 200 3 3 0.03 0.03 0.045
Zartoshti 110 200 35 40 0.35 0.4 0.55
Total 712 2404 212 288 0.17637271214642264 0.23960066555740434 0.2962
Annotations

This variant falls on 6 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) 3.601
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