12:21641884 C / T

dbSNP
rs12318289
Allele Frequency
0.09068
Allele Count
218 / 2404
UCSC
12-21641884-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
6033.69
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 10 204 4 2 0.0392 0.0196 0.04902
Azeri 26 200 13 0 0.13 0.0 0.13
Baloch 29 202 14 1 0.1386 0.0099 0.1436
Gilaki 12 198 6 0 0.0606 0.0 0.06061
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 18 200 9 0 0.09 0.0 0.09
Mazani 17 200 8 1 0.08 0.01 0.085
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 30 200 14 2 0.14 0.02 0.15
Sistani 17 200 8 1 0.08 0.01 0.085
Turkmen 22 200 10 2 0.1 0.02 0.11
Zartoshti 25 200 12 1 0.12 0.01 0.125
Total 218 2404 104 10 0.08652246256239601 0.008319467554076539 0.09068
Annotations

This variant falls on 4 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) 2.059
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