1:2430617 C / T


Site Quality
2349300.0
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 90 204 23 44 0.2255 0.4314 0.4412
Azeri 85 200 13 59 0.13 0.59 0.425
Baloch 76 202 11 54 0.1089 0.5347 0.3762
Gilaki 107 198 28 51 0.2828 0.5152 0.5404
Kurd 85 200 22 41 0.22 0.41 0.425
Lur 84 200 15 54 0.15 0.54 0.42
Mazani 90 200 20 50 0.2 0.5 0.45
Persian 96 200 24 48 0.24 0.48 0.48
Persian Gulf Islander 55 200 9 37 0.09 0.37 0.275
Sistani 88 200 23 42 0.23 0.42 0.44
Turkmen 81 200 21 39 0.21 0.39 0.405
Zartoshti 130 200 41 48 0.41 0.48 0.65
Total 1067 2404 250 567 0.2079866888519135 0.4717138103161398 0.4438
Annotations

This variant falls on 9 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) 13.48
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score 0.103

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above