12:21609773 A / G


Site Quality
228372.0
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 23 204 1 21 0.0098 0.2059 0.1127
Azeri 25 200 1 23 0.01 0.23 0.125
Baloch 26 202 2 22 0.0198 0.2178 0.1287
Gilaki 14 198 1 12 0.0101 0.1212 0.07071
Kurd 17 200 0 17 0.0 0.17 0.085
Lur 28 200 3 22 0.03 0.22 0.14
Mazani 23 200 0 23 0.0 0.23 0.115
Persian 15 200 2 11 0.02 0.11 0.075
Persian Gulf Islander 19 200 1 17 0.01 0.17 0.095
Sistani 23 200 2 19 0.02 0.19 0.115
Turkmen 31 200 0 31 0.0 0.31 0.155
Zartoshti 38 200 3 32 0.03 0.32 0.19
Total 282 2404 16 250 0.013311148086522463 0.2079866888519135 0.1173
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) 2.689
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