1:2426149 C / A


Site Quality
124244.0
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 50 204 7 36 0.0686 0.3529 0.2451
Azeri 46 200 8 30 0.08 0.3 0.23
Baloch 52 202 7 38 0.0693 0.3762 0.2574
Gilaki 35 198 7 21 0.0707 0.2121 0.1768
Kurd 37 200 3 31 0.03 0.31 0.185
Lur 40 200 8 24 0.08 0.24 0.2
Mazani 43 200 9 25 0.09 0.25 0.215
Persian 35 200 8 19 0.08 0.19 0.175
Persian Gulf Islander 66 200 14 38 0.14 0.38 0.33
Sistani 58 200 11 36 0.11 0.36 0.29
Turkmen 57 200 15 27 0.15 0.27 0.285
Zartoshti 38 200 5 28 0.05 0.28 0.19
Total 557 2404 102 353 0.08485856905158069 0.29367720465890185 0.2317
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) 5.726
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