12:21609684 A / G


Site Quality
69731.7
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 34 204 4 26 0.0392 0.2549 0.1667
Azeri 38 200 4 30 0.04 0.3 0.19
Baloch 28 202 2 24 0.0198 0.2376 0.1386
Gilaki 25 198 3 19 0.0303 0.1919 0.1263
Kurd 31 200 1 29 0.01 0.29 0.155
Lur 33 200 1 31 0.01 0.31 0.165
Mazani 34 200 2 30 0.02 0.3 0.17
Persian 29 200 2 25 0.02 0.25 0.145
Persian Gulf Islander 30 200 4 22 0.04 0.22 0.15
Sistani 19 200 0 19 0.0 0.19 0.095
Turkmen 14 200 1 12 0.01 0.12 0.07
Zartoshti 42 200 5 32 0.05 0.32 0.21
Total 357 2404 29 299 0.024126455906821963 0.24875207986688852 0.1485
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) 0.62
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