12:21608891 T / C


Site Quality
248624.0
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 74 204 20 34 0.1961 0.3333 0.3627
Azeri 76 200 26 24 0.26 0.24 0.38
Baloch 94 202 22 50 0.2178 0.495 0.4653
Gilaki 83 198 23 37 0.2323 0.3737 0.4192
Kurd 81 200 22 37 0.22 0.37 0.405
Lur 82 200 29 24 0.29 0.24 0.41
Mazani 95 200 27 41 0.27 0.41 0.475
Persian 64 200 22 20 0.22 0.2 0.32
Persian Gulf Islander 102 200 28 46 0.28 0.46 0.51
Sistani 76 200 20 36 0.2 0.36 0.38
Turkmen 33 200 11 11 0.11 0.11 0.165
Zartoshti 119 200 36 47 0.36 0.47 0.595
Total 979 2404 286 407 0.23793677204658903 0.3386023294509151 0.4072
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) 2.603
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