12:21609288 C / T

dbSNP
rs4388944
Allele Frequency
0.2225
Allele Count
535 / 2404
UCSC
12-21609288-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
45077.7
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 35 204 13 9 0.1275 0.0882 0.1716
Azeri 40 200 15 10 0.15 0.1 0.2
Baloch 73 202 23 27 0.2277 0.2673 0.3614
Gilaki 39 198 15 9 0.1515 0.0909 0.197
Kurd 42 200 14 14 0.14 0.14 0.21
Lur 24 200 9 6 0.09 0.06 0.12
Mazani 65 200 25 15 0.25 0.15 0.325
Persian 14 200 7 0 0.07 0.0 0.07
Persian Gulf Islander 71 200 22 27 0.22 0.27 0.355
Sistani 40 200 14 12 0.14 0.12 0.2
Turkmen 9 200 3 3 0.03 0.03 0.045
Zartoshti 83 200 34 15 0.34 0.15 0.415
Total 535 2404 194 147 0.16139767054908485 0.12229617304492513 0.2225
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) 3.545
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