12:21593037 T / C


Site Quality
40705.3
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 39 204 16 7 0.1569 0.0686 0.1912
Azeri 39 200 16 7 0.16 0.07 0.195
Baloch 69 202 21 27 0.2079 0.2673 0.3416
Gilaki 33 198 12 9 0.1212 0.0909 0.1667
Kurd 39 200 12 15 0.12 0.15 0.195
Lur 15 200 6 3 0.06 0.03 0.075
Mazani 60 200 23 14 0.23 0.14 0.3
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 68 200 20 28 0.2 0.28 0.34
Sistani 31 200 13 5 0.13 0.05 0.155
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 61 200 23 15 0.23 0.15 0.305
Total 459 2404 164 131 0.13643926788685523 0.10898502495840266 0.1909
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) 1.785
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