12:21648253 A / G


Site Quality
38528.1
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 72 204 36 0 0.3529 0.0 0.3529
Azeri 52 200 26 0 0.26 0.0 0.26
Baloch 108 202 54 0 0.5347 0.0 0.5347
Gilaki 66 198 33 0 0.3333 0.0 0.3333
Kurd 50 200 25 0 0.25 0.0 0.25
Lur 54 200 27 0 0.27 0.0 0.27
Mazani 120 200 60 0 0.6 0.0 0.6
Persian 38 200 19 0 0.19 0.0 0.19
Persian Gulf Islander 100 200 50 0 0.5 0.0 0.5
Sistani 79 200 39 1 0.39 0.01 0.395
Turkmen 42 200 21 0 0.21 0.0 0.21
Zartoshti 107 200 53 1 0.53 0.01 0.535
Total 888 2404 443 2 0.3685524126455907 0.0016638935108153079 0.3694
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) 0.232
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