12:21627525 C / T

dbSNP
rs10492116
Allele Frequency
0.006656
Allele Count
16 / 2404
UCSC
12-21627525-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
406.13
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 2 204 1 0 0.0098 0.0 0.009804
Azeri 0 200 0 0 0.0 0.0 0
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 1 200 0 1 0.0 0.01 0.005
Mazani 5 200 2 1 0.02 0.01 0.025
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 16 2404 7 2 0.005823627287853577 0.0016638935108153079 0.006656
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) 3.365
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