12:21613923 T / C


Site Quality
54559.7
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 49 204 16 17 0.1569 0.1667 0.2402
Azeri 51 200 17 17 0.17 0.17 0.255
Baloch 73 202 18 37 0.1782 0.3663 0.3614
Gilaki 40 198 18 4 0.1818 0.0404 0.202
Kurd 54 200 14 26 0.14 0.26 0.27
Lur 29 200 13 3 0.13 0.03 0.145
Mazani 69 200 25 19 0.25 0.19 0.345
Persian 12 200 6 0 0.06 0.0 0.06
Persian Gulf Islander 70 200 21 28 0.21 0.28 0.35
Sistani 44 200 17 10 0.17 0.1 0.22
Turkmen 3 200 0 3 0.0 0.03 0.015
Zartoshti 81 200 29 23 0.29 0.23 0.405
Total 575 2404 194 187 0.16139767054908485 0.15557404326123128 0.2392
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) 1.282
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