12:21628320 C / T


Site Quality
448758.0
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 76 204 16 44 0.1569 0.4314 0.3725
Azeri 81 200 23 35 0.23 0.35 0.405
Baloch 83 202 18 47 0.1782 0.4653 0.4109
Gilaki 77 198 16 45 0.1616 0.4545 0.3889
Kurd 89 200 19 51 0.19 0.51 0.445
Lur 81 200 23 35 0.23 0.35 0.405
Mazani 78 200 18 42 0.18 0.42 0.39
Persian 76 200 17 42 0.17 0.42 0.38
Persian Gulf Islander 102 200 21 60 0.21 0.6 0.51
Sistani 76 200 16 44 0.16 0.44 0.38
Turkmen 52 200 14 24 0.14 0.24 0.26
Zartoshti 89 200 19 51 0.19 0.51 0.445
Total 960 2404 220 520 0.18302828618968386 0.43261231281198004 0.3993
Annotations

This variant falls on 2 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) 3.188
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